Creutzfeldt-Jakob disease (redirected from Creutzfeldt-Jacob disease)

Creutzfeldt-Jakob Disease 

Definition

Creutzfeldt-Jakob disease (CJD) is a transmissible, rapidly progressing, neurodegenerative disorder called a spongiform degeneration related to "mad cow disease."

Description

Before 1995, Creutzfeldt-Jakob disease was not well known outside the medical profession. Even within it, many practitioners did not know much about it. Most doctors had never seen a case. With the recognition of a so-called "new variant" form of CJD and the strong possibility that those with it became infected simply by eating contaminated beef, CJD has become one of the most talked-about diseases in the world. Additionally, the radical theory that the infectious agent is a normal protein that has been changed in its form also has sparked much interest.

First described in the early twentieth century independently by Creutzfeldt and Jakob, CJD is a neurodegenerative disease causing a rapidly progressing dementia ending in death, usually within eight months of symptom onset. It also is a very rare disease, affecting only about one in every million people throughout the world. In the United States, CJD is thought to affect about 250 people each year. CJD affects adults primarily between ages 50 and 75.

Spongiform encephalopathies

The most obvious pathologic feature of CJD is the formation of numerous fluid-filled spaces in the brain (vacuoles) resulting in a sponge-like appearance. CJD is one of several human "spongiform encephalopathies," diseases that produce this characteristic change in brain tissue. Others are kuru; Gerstmann-Straussler-Scheinker disease, a genetic disorder predominantly characterized by cerebellar ataxia (a kind of movement disorder); and fatal familial insomnia, with symptoms of progressive sleeplessness, weakness, and dysfunction of the nervous system that affects voluntary and involuntary movements and functions.

Kuru was prevalent among the Fore people in Papua, New Guinea, and spread from infected individuals after their deaths through the practice of ritual cannibalism, in which the relatives of the dead person honored him by consuming his organs, including the brain. Discovery of the infectious nature of kuru won the Nobel Prize for Carleton Gadjusek in 1976. The incubation period for kuru was between four to 30 years or more. While kuru has virtually disappeared since these cannibalistic practices stopped, several new cases continue to arise each year.

Cases of CJD have been grouped into three types: familial, iatrogenic, and sporadic.

• Familial CJD, representing 5-15% of cases, is inherited in an autosomal dominant manner, meaning that either parent may pass along the disease to a child, who then may develop CJD later in life.
• Iatrogenic CJD occurs when a person is infected during a medical procedure, such as organ donation, blood transfusion, or brain surgery. The rise in organ donation has increased this route of transmission; grafts of infected corneas and dura mater (the tissue covering the brain) have been shown to transmit CJD. Another source is hormones concentrated from the pituitary glands of cadavers, some of whom carried CJD, for use in people with growth hormone deficiencies. Iatrogenic infection from exposure to nerve-containing tissue represents a small fraction of all cases. The incubation period after exposure to the infectious agent is very long and is estimated to be from less than 10 to more than 30 years. It remains unlikely, but not impossible, that blood from patients with CJD is infectious to others by transfusion.
• Sporadic CJD represents at least 85% of all cases. Sporadic cases have no identifiable source of infection. Death usually follows first symptoms within eight months.

Animal forms and "mad cow disease"

Six forms of spongiform encephalopathies are known to occur in other mammals: scrapie in sheep, recognized for more than 200 years; chronic wasting disease in elk and mule deer in Wyoming and Colorado; transmissible mink encephalopathy; exotic ungulate encephalopathy in some types of zoo animals; feline spongiform encephalopathy in domestic cats; and bovine spongiform encephalopathy (BSE) in cows.

BSE was first recognized in Britain in 1986. Besides the spongiform changes in the brain, BSE causes dementia-like behavioral changes—hence the name "mad cow disease." BSE was thought to be an altered form of scrapie, transmitted to cows when they were fed sheep offal (slaughterhouse waste) as part of their feed, but researchers believe it is a primary cattle disease spread by contaminated feed.

The use of slaughterhouse offal in animal feed has been common in many countries and has been practiced for at least 50 years. The trigger for the BSE epidemic in Great Britain seems to have come in the early 1980s, when the use of organic solvents for preparation of offal was altered there. It is possible that these solvents had been destroying the agent called a prion, thereby preventing infection, and that the change in preparation procedure opened the way for the agent to "jump species" and cause BSE in cows that consumed scrapie-infected meal. The slaughter of infected (but not yet visibly sick) cows at the end of their useful farm lives, and the use of their carcasses for feed, spread the infection rapidly and widely. For at least a year after BSE was first recognized in British herds, infected bovine remains continued to be incorporated into feed, spreading the disease still further. Although milk from infected cows never has been shown to pass the infectious agent, passage from infected mother to calf may have occurred through unknown means. Researchers also have tried to confirm how to stop infection of the human food chain once the disease spread among cows. In 2003, a study reported that it spread through nervous system tissue in processed meat and that proper temperature and pressure controls could help ensure safety of commercial beef.

Beginning in 1988, the British government took steps to stop the spread of BSE, banning the use of bovine offal in feed and other products and ordering the slaughter of infected cows. By then, the slow-acting agent had become epidemic in British herds. In 1992, it was diagnosed in more than 25,000 animals (1% of the British herd). By mid-1997, the cumulative number of BSE cases in the United Kingdom had risen to more than 170,000. The feeding ban stemmed the tide of the epidemic; however, the number of new cases each week fell from a peak of 1,000 in 1993 to less than 300 two years later.

The export of British feed and beef to member countries was banned by the European Union, but cases of BSE had developed in Europe by then as well; however, by mid-1997, only about 1,000 cases had been identified. In 1989, the United States banned import of British beef and began monitoring United States herds in 1990. In December 2003, the first and only case (as of late March 2004) of BSE was discovered in the United States. This prompted recommendations of new safeguards to prevent further spread. Among these were regulations banning animal blood in cattle feed.

Variant cjd: the human equivalent of mad cow disease

From the beginning of the BSE epidemic, scientists and others in Britain feared that BSE might jump species again to infect humans who had consumed infected beef. This, however, had never occurred in scrapie from sheep, a disease known for hundreds of years. In 1996, the first report of this possibility occurred and the fear seemed to be realized with the first cases of a new variant of Creutzfeldt-Jacob disease, termed nvCJD, now just vCJD. Its victims are much younger than the 60-65 year old average for CJD, and the time from symptom onset to death has averaged 12 months or more instead of eight. The disease appears to cause more psychiatric symptoms early on. EEG abnormalities characteristic of CJD are not typically seen in vCJD.

By early 2004, CJD had claimed 143 victims in Great Britain and 10 in other countries. It is of major concern that the number of cases per year seems to be increasing by a factor of 1.35 each year. The only known case in the United States to date had been acquired while the person had been in Great Britain.

Evidence is growing stronger that vCJD is in fact caused by BSE:

• almost all of the cases so far have occurred in Great Britain, the location of the BSE epidemic

• BSE injected into monkeys produces a disease very similar to vCJD
• BSE and vCJD produce the same brain lesions after the same incubation period when injected into laboratory mice
• brain proteins isolated from vCJD victims, but not from the other forms of CJD, share similar molecular characteristics with brain proteins of animals that died from BSE

Researchers now treat the BSE-vCJD connection as solidly established.

Assuming that BSE is the source, the question that has loomed from the beginning has been how many people will eventually be affected. Epidemiological models once placed estimates at tens of thousands, but in 2003, scientists predicted a quicker end to the epidemic and have substantially lowered the numbers expected to contract the disease. The exact incubation period of vCJD in humans is about 10 to 20 years or longer, so it is more difficult to predict the number of cases. Researchers know that some people are more susceptible to vCJD, including young people age 10 to 20 years old.

Causes and symptoms

Causes

It is clear that Creutzfeldt-Jakob disease is caused by an infectious agent, but it is not yet clear what type of agent that is. Originally assumed to be a virus, evidence is accumulating that, instead, CJD is caused by a protein called a prion (PREE-on, for "proteinaceous infectious particle") transmitted from victim to victim. The other spongiform encephalopathies also are hypothesized to be due to prion infection.

If this hypothesis is proven true, it would represent one of the most radical new ideas in biology since the discovery of deoxyribonucleic acid (DNA). All infectious diseases, in fact all life, use nucleic acids—DNA or ribonucleic acid (RNA)—to code the instructions needed for reproduction. Inactivation of the nucleic acids destroys the capacity to reproduce. However, when these same measures are applied to infected tissue from spongiform encephalopathy victims, infectivity is not destroyed. Furthermore, purification of infected tissue to concentrate the infectious fraction yields protein, not nucleic acid. While it remains possible that some highly stable nucleic acid remains hidden within the purified protein, this is seemingly less and less likely as further experiments are done. The "prion hypothesis," as it is called, is now widely accepted, at least provisionally, by most researchers in the field. The most vocal proponent of the hypothesis, Stanley Prusiner, was awarded the Nobel Prize in 1997 for his work in the prion diseases.

A prion is an altered form of a normal brain protein. The normal protein has a helical shape along part of its length. In the prion form, a sheet structure replaces the helix. According to the hypothesis, when the normal form interacts with the prion form, some of its helical part is converted to a sheet, thus creating a new prion capable of transforming other normal forms. In this way, the disease process resembles crystallization more than typical viral infection, in which the virus commands the host's cellular machinery to reproduce more of the virus. Build-up of the sheet form causes accumulation of abnormal protein clumps and degeneration of brain cells, which is thought to cause the disease.

The brain protein affected by the prion, called PrP, is part of the membrane of brain cells, but its exact function is unknown. Exposure to the infectious agent is, of course, still required for disease development. Prion diseases are not contagious in the usual sense, and transmission from an infected person to another person requires direct inoculation of infectious material.

Familial CJD, on the other hand, does not require exposure, but develops through the inheritance of other, more disruptive mutations in the gene for the normal PrP protein. The other two inherited human prion diseases, Gerstmann-Straussler-Scheinker disease and fatal familial insomnia, involve different mutations in the same gene.

The large majority of CJD cases are sporadic, meaning they have no known route of infection or genetic link. Causes of sporadic CJD are likely to be diverse and may include spontaneous genetic mutation, spontaneous protein changes, or unrecognized exposure to infectious agents. It is highly likely that future research will identify more risk factors associated with sporadic CJD.

Symptoms

About one in four people with CJD begin their illness with weakness, changes in sleep patterns, weight loss, or loss of appetite or sexual drive. A person with CJD may first complain of visual disturbances, including double vision, blurry vision, or partial loss of vision. Some visual symptoms are secondary to cortical blindness related to death of nerve cells in the occipital lobe of the brain responsible for vision. This form of visual loss is unusual in that patients may be unaware that they are unable to see. These symptoms may appear weeks to months before the onset of dementia.

The most characteristic symptom of CJD is rapidly progressing dementia, or loss of mental function. Dementia is marked by:

• memory losses
• impaired abstraction and planning
• language and comprehension disturbances
• poor judgment
• disorientation
• decreased attention and increased restlessness
• personality changes and psychosis
• hallucinations

Muscle spasms and jerking movements, called myoclonus, are also a prominent symptom of CJD. Balance and coordination disturbance (ataxia), is common in CJD, and is more pronounced in nvCJD. Stiffness, difficulty moving, and other features representing Parkinson's disease are seen and can progress to akinetic mutism, which is a state of being unable to speak or move.

Diagnosis

CJD is diagnosed by a clinical neurological exam and electroencephalography (EEG), which shows characteristic spikes called triphasic sharp waves. Magnetic resonance imaging (MRI) or computed tomography scans (CT) should be done to exclude other forms of dementia, and in CJD typically shows atrophy or loss of brain tissue. Lumbar puncture, or spinal tap, may be done to rule out other causes of dementia (as cell count, chemical analysis, and other routine tests are normal in CJD) and to identify elevated levels of marker proteins known as 14-3-3. Another marker, neuron-specific enolase, may also be increased in CJD. CJD is conclusively diagnosed after death by brain autopsy. Scientists are investigating whether testing lymphatic tissue such as the tonsil may be an early tool in vCJD diagnosis. Additionally, recent studies have suggested that other blood tests may be useful as well.

Treatment

There is no cure for CJD, and no treatment that slows the progression of the disease. Drug therapy and nursing care are aimed at minimizing psychiatric symptoms and increasing patient comfort. However, the rapid progression of CJD frustrates most attempts at treatment, since decreasing cognitive function and more prominent behavioral symptoms develop so quickly. Despite the generally grim prognosis, a few CJD patients progress more slowly and live longer than the average; for these patients, treatment will be more satisfactory. Scientists are investigating whether some medicines that can "break" the abnormal protein form may be useful and whether a vaccine could help.

Prognosis

Creutzfeldt-Jakob disease has proven invariably fatal, with death following symptom onset by an average of eight months. About 5% of patients live longer than two years. Death from vCJD has averaged approximately 12 months after onset. However, in 2003, clinicians reported improvement in a patient with vCJD who received a new experimental drug called Pentosan.

Prevention

There is no known way to prevent sporadic CJD, by far the most common type. Not everyone who inherits the gene mutation for familial CJD will develop the disease, but at present, there is no known way to predict who will and who will not succumb. The incidence of iatrogenic CJD has fallen with recognition of its sources, the development of better screening techniques for infected tissue, and the use of sterilization techniques for surgical instruments that inactivate prion proteins. Fortunately, scientists are making progress. In 2003, researchers announced that they had uncovered the basis for diagnosing, treating and possibly preventing prion diseases such as vCJD. Their research possibly could lead to a vaccine and immunotherapy drugs.

Key terms

Autosomal dominant inheritance — A pattern of inheritance in which a trait will be expressed if the gene is inherited from either parent.

Encephalopathy — Brain disorder characterized by memory impairment and other symptoms.

Iatrogenic — Caused by a medical procedure.

Nucleic acids — The cellular molecules DNA and RNA that act as coded instructions for the production of proteins and are copied for transmission of inherited traits.

Strategies for prevention of vCJD are a controversial matter, as they involve a significant sector of the agricultural industry and a central feature of the diet in many countries. The infectious potential of contaminated meat is unknown, because the ability to detect prions within meat is limited. Surveillance of North American herds strongly suggests there is no BSE here, and strict regulations on imports of European livestock make future outbreaks highly unlikely. Therefore, avoidance of all meat originating in North America, simply on grounds of BSE risk, is a personal choice unsupported by current data.

Resources

Periodicals

Brown, Paul, et al. "Ultra-high Pressure Inactivation of Prion Infectivity in Processed Meat: A Practical Method to Prevent Human Infection." Proceedings of the National Academy of Sciences of the United States May 13, 2003: 6093-6095.

"GP Sees Patient with vCJD Improve." Pulse June 23, 2003: 12.

Kaye, Donald. "FDA Launches New Mad Cow Rules to Protect U.S. Food, Feed." Clinical Infectious Diseases March 15, 2004: 3-5.

"Large Human Mad Cow Epidemic Unlikely—Scientists." Clinical Infectious Diseases April 15, 2003: i.

"Report Appears to Confirm Blood-borne Transmission of Creutzfeldt-Jakob Disease." Blood Weekly January 8, 2004: 28.

"Researchers Discover Possible Diagnosis, Treatment, Vaccine." Immunotherapy Weekly June 25, 2003: 2.

"Scientists Predict Swift End to vCJD Epidemic." British Medical Journal May 24, 2003: 1104-1111.

"U.S. Lawmakers Want Increase in Mad Cow Testing." Healthcare Purchasing News March 2004: 85.

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disease /dis·ease/ (dĭ-zēz´) any deviation from or interruption of the normal structure or function of any body part, organ, or system that is manifested by a characteristic set of symptoms and signs and whose etiology, pathology, and prognosis may be known or unknown. See also entries under syndrome.

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acquired cystic disease of kidney  the development of cysts in the formerly noncystic failing kidney in end-stage renal disease.

Addison's disease  bronzelike pigmentation of the skin, severe prostration, progressive anemia, low blood pressure, diarrhea, and digestive disturbance, due to adrenal hypofunction.

Albers-Schönberg disease  osteopetrosis.

allogeneic disease  graft-versus-host reaction occurring in immunosuppressed animals receiving injections of allogeneic lymphocytes.

Alpers' disease  a rare disease of young children, characterized by neuronal deterioration of the cerebral cortex and elsewhere, progressive mental deterioration, motor disturbances, seizures, and early death.

alpha chain disease  heavy chain disease characterized by plasma cell infiltration of the lamina propria of the small intestine resulting in malabsorption with diarrhea, abdominal pain, and weight loss, possibly accompanied by pulmonary involvement.

Alzheimer's disease  progressive degenerative disease of the brain, of unknown cause; characterized by diffuse atrophy throughout the cerebral cortex with distinctive histopathological changes.

Andersen's disease  glycogen storage d., type IV.

apatite deposition disease  a connective tissue disorder marked by deposition of hydroxyapatite crystals in one or more joints or bursae.

Aran-Duchenne disease  spinal muscular atrophy.

arteriosclerotic cardiovascular disease  (ASCVD) atherosclerotic involvement of arteries to the heart and to other organs, resulting in debility or death; sometimes used specifically for ischemic heart disease.

arteriosclerotic heart disease  (ASHD) ischemic heart d.

autoimmune disease  any of a group of disorders in which tissue injury is associated with humoral or cell-mediated responses to the body's own constituents; they may be systemic or organ-specific.

Ayerza's disease  polycythemia vera with chronic cyanosis, dyspnea, bronchitis, bronchiectasis, hepatosplenomegaly, bone marrow hyperplasia, and pulmonary artery sclerosis.

Banti's disease  congestive splenomegaly.

Barlow disease  scurvy in infants.

Barraquer's disease  partial lipodystrophy.

Basedow's disease  Graves' d.

Batten disease , Batten-Mayou disease

1. Vogt-Spielmeyer d.

2. more generally, any or all of the group of disorders constituting neuronal ceroid lipofuscinosis.

Bayle's disease  general paresis.

Bazin's disease  erythema induratum.

Bekhterev's (Bechterew's) disease  ankylosing spondylitis.

Benson's disease  asteroid hyalosis.

Berger's disease  IgA glomerulonephritis.

Bernhardt's disease , Bernhardt-Roth disease meralgia paresthetica.

Besnier-Boeck disease  sarcoidosis.

Best's disease  congenital macular degeneration.

Bielschowsky-Janský disease  Janský-Bielschowsky d.

Binswanger's disease  a degenerative dementia of presenile onset caused by demyelination of the subcortical white matter of the brain.

black disease  a fatal disease of sheep, and sometimes of humans, in the United States and Australia, due to Clostridium novyi, marked by necrotic areas in the liver.

Blocq's disease  astasia-abasia.

Blount disease  tibia vara.

Boeck's disease  sarcoidosis.

Bornholm disease  epidemic pleurodynia.

Bowen's disease  a squamous cell carcinoma in situ, often due to prolonged exposure to arsenic; usually occurring on sun-exposed areas of skin. The corresponding lesion on the glans penis is termed erythroplasia of Queyrat.

Brill's disease  Brill-Zinsser d.

Brill-Symmers disease  giant follicular lymphoma.

Brill-Zinsser disease  mild recrudescence of epidemic typhus years after the initial infection, because Rickettsia prowazekii has persisted in body tissue in an inactive state, with humans as the reservoir.

broad beta disease  familial dysbetalipoproteinemia; named for the electrophoretic mobility of the abnormal chylomicron and very-low-density lipoprotein remnants produced.

Busse-Buschke disease  cryptococcosis.

Caffey's disease  infantile cortical hyperostosis.

calcium hydroxyapatite deposition disease  apatite deposition d.

calcium pyrophosphate deposition disease  (CPDD) an acute or chronic inflammatory arthropathy caused by deposition of calcium pyrophosphate dihydrate (CPPD) crystals in the joints, chondrocalcinosis, and crystals in the synovial fluid. Acute attacks are sometimes called pseudogout.

Calvé-Perthes disease  osteochondrosis of capitular epiphysis of femur.

Camurati-Engelmann disease  diaphyseal dysplasia.

Canavan disease , Canavan-van Bogaert-Bertrand disease spongy degeneration of the central nervous system.

Carrión's disease  bartonellosis.

Castleman disease  a benign or premalignant condition resembling lymphoma but without recognizable malignant cells; there are isolated masses of lymphoid tissue and lymph node hyperplasia, usually in the abdominal or mediastinal area.

cat-scratch disease  a usually benign, self-limited disease of the regional lymph nodes, caused by Bartonella henselae and characterized by a papule or pustule at the site of a cat scratch, subacute painful regional lymphadenitis, and mild fever.

celiac disease  a malabsorption syndrome precipitated by ingestion of gluten-containing foods, with loss of villous structure of the proximal intestinal mucosa, bulky, frothy diarrhea, abdominal distention, flatulence, weight loss, and vitamin and electrolyte depletion.

Chagas disease  trypanosomiasis due to Trypanosoma cruzi; its course may be acute, subacute, or chronic.

Charcot-Marie-Tooth disease  muscular atrophy of variable inheritance, beginning in the muscles supplied by the peroneal nerves and progressing to those of the hands and arms.

cholesteryl ester storage disease  (CESD) a lysosomal storage disease due to deficiency of lysosomal cholesterol esterase, variably characterized by some combination of hepatomegaly, hyperbetalipoproteinemia, and premature atherosclerosis.

Christmas disease  hemophilia B.

chronic granulomatous disease  frequent, severe infections of the skin, oral and intestinal mucosa, reticuloendothelial system, bones, lungs, and genitourinary tract associated with a genetically determined defect in the intracellular bactericidal function of leukocytes.

chronic obstructive pulmonary disease  (COPD) any disorder marked by persistent obstruction of bronchial air flow.

Coats' disease  exudative retinopathy.

collagen disease  any of a group of diseases characterized by widespread pathologic changes in connective tissue; they include lupus erythematosus, dermatomyositis, scleroderma, polyarteritis nodosa, thrombotic purpura, rheumatic fever, and rheumatoid arthritis. Cf. collagen disorder.

communicable disease  a disease the causative agents of which may pass or be carried from one person to another directly or indirectly.

Concato's disease  progressive malignant polyserositis with large effusions into the pericardium, pleura, and peritoneum.

constitutional disease  one involving a system of organs or one with widespread symptoms.

Cori's disease  glycogen storage d., type III.

coronary artery disease  (CAD) atherosclerosis of the coronary arteries, which may cause angina pectoris, myocardial infarction, and sudden death; risk factors include hypercholesterolemia, hypertension, smoking, diabetes mellitus, and low levels of high-density lipoproteins.

coronary heart disease  (CHD) ischemic heart d.

Cowden disease  a hereditary disease marked by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies.

Creutzfeldt-Jakob disease  a rare prion disease existing in sporadic, familial, and infectious forms, with onset usually in middle life, and having a wide variety of clinical and pathological features. The most commonly seen are spongiform degeneration of neurons, neuronal loss, gliosis, and amyloid plaque formation, accompanied by rapidly progressive dementia, myoclonus, motor disturbances, and encephalographic changes, with death occurring usually within a year of onset.

Crigler-Najjar disease  see under syndrome.

Crohn's disease  regional enteritis; a chronic granulomatous inflammatory disease usually in the terminal ileum with scarring and thickening of the wall, often leading to intestinal obstruction and formation of fistulas and abscesses.

Crouzon's disease  craniofacial dysostosis.

Cruveilhier's disease  spinal muscular atrophy.

Cushing's disease  Cushing's syndrome in which the hyperadrenocorticism is secondary to excessive pituitary secretion of adrenocorticotropic hormone.

cystic disease of breast  mammary dysplasia with formation of blue dome cysts.

cytomegalic inclusion disease , cytomegalovirus disease an infection due to cytomegalovirus and marked by nuclear inclusion bodies in enlarged infected cells. In the congenital form, there is hepatosplenomegaly with cirrhosis, and microcephaly with mental or motor retardation. Acquired disease may cause a clinical state similar to infectious mononucleosis. When acquired by blood transfusion, postperfusion syndrome results.

deficiency disease  a condition caused by dietary or metabolic deficiency, including all diseases due to an insufficient supply of essential nutrients.

degenerative joint disease  osteoarthritis.

Dejerine's disease , Dejerine-Sottas disease progressive hypertrophic neuropathy.

demyelinating disease  any condition characterized by destruction of the myelin sheaths of nerves.

disappearing bone disease  gradual resorption of a bone or group of bones, sometimes associated with multiple hemangiomas, usually in children or young adults and following trauma.

diverticular disease  a general term including the prediverticular state, diverticulosis, and diverticulitis.

Duchenne's disease 

1. spinal muscular atrophy.

2. progressive bulbar paralysis.

3. tabes dorsalis.

4. Duchenne's muscular dystrophy.

Duchenne-Aran disease  spinal muscular atrophy.

Duhring's disease  dermatitis herpetiformis.

Dukes' disease  a febrile disease of childhood marked by an exanthematous eruption, probably due to a virus of the Coxsackie-ECHO group.

Durand-Nicolas-Favre disease  lymphogranuloma venereum.

Duroziez's disease  congenital mitral stenosis.

Ebola virus disease  fatal acute hemorrhagic fever resembling Marburg virus disease but caused by Ebola virus, seen in the Sudan and Zaire.

Ebstein's disease  see under anomaly.

end-stage renal disease  chronic irreversible renal failure.

Erb's disease  Duchenne's muscular dystrophy.

Erb-Goldflam disease  myasthenia gravis.

Eulenburg's disease  paramyotonia congenita.

extrapyramidal disease  any of a group of clinical disorders marked by abnormal involuntary movements, alterations in muscle tone, and postural disturbances; they include parkinsonism, chorea, athetosis, etc.

Fabry's disease  an X-linked lysosomal storage disease of glycosphingolipid catabolism resulting from deficiency of α-galactosidase A and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems.

Farber's disease  a lysosomal storage disease due to defective ceramidase and characterized by hoarseness, aphonia, dermatitis, bone and joint deformities, granulomatous reaction, and psychomotor retardation.

Fazio-Londe disease  a rare type of progressive bulbar palsy occurring in childhood.

Feer disease  acrodynia.

fibrocystic disease of breast  a form of mammary dysplasia with formation of cysts of various size containing a semitransparent, turbid fluid that imparts a brown to blue color to the unopened cysts; believed due to abnormal hyperplasia of the ductal epithelium and dilatation of the ducts of the mammary gland, resulting from exaggeration and distortion of normal menstrual cycle–related breast changes.

fibrocystic disease of the pancreas  cystic fibrosis.

fifth disease  erythema infectiosum.

flint disease  chalicosis.

floating beta disease  familial dysbetalipoproteinemia.

focal disease  a localized disease.

foot-and-mouth disease  an acute, contagious viral disease of wild and domestic cloven-footed animals and occasionally humans, marked by vesicular eruption on the lips, buccal cavity, pharynx, legs, and feet.

Forbes' disease  glycogen storage d., type III.

fourth disease  Dukes' d.

fourth venereal disease  granuloma inguinale.

Fox-Fordyce disease  a persistent and recalcitrant, itchy, papular eruption, chiefly of the axillae and pubes, due to inflammation of apocrine sweat glands.

Freiberg's disease  osteochondrosis of the head of the second metatarsal bone.

Friedländer's disease  endarteritis obliterans.

Friedreich's disease  paramyoclonus multiplex.

functional disease  see under disorder.

Garré's disease  sclerosing nonsuppurative osteomyelitis.

gastroesophageal reflux disease  (GERD) any condition resulting from gastroesophageal reflux, characterized by heartburn and regurgitation; see also reflux esophagitis.

Gaucher's disease  a hereditary disorder of glucocerebroside metabolism, marked by the presence of Gaucher's cells in the marrow, and by hepatosplenomegaly and erosion of the cortices of long bones and pelvis. The adult form is associated with moderate anemia and thrombocytopenia, and yellowish pigmentation of the skin; in the infantile form there is, in addition, marked central nervous system impairment; in the juvenile form there are rapidly progressive systemic manifestations but moderate central nervous system involvement.

genetic disease  a general term for any disorder caused by a genetic mechanism, comprising chromosome aberrations (or anomalies), mendelian (or monogenic or single-gene) disorders, and multifactorial disorders.

gestational trophoblastic disease  see under neoplasia.

Gilbert disease  a familial, benign elevation of bilirubin levels without evidence of liver damage or hematologic abnormalities.

Gilles de la Tourette's disease  see under syndrome.

Glanzmann disease  see thrombasthenia.

glycogen storage disease  any of a number of rare inborn errors of metabolism caused by defects in specific enzymes or transporters involved in the metabolism of glycogen.

type I glucose-6-phosphatase deficiency: a severe hepatorenal form due to deficiency of the hepatic enzyme glucose-6-phosphatase, resulting in liver and kidney involvement, with hepatomegaly, hypoglycemia, hyperuricemia, and gout

type IA glycogen storage d., type I.

type IB a form resembling type I but additionally predisposing to infection due to neutropenia and to chronic inflammatory bowel disease; due to a defect in the transport system for glucose 6-phosphate.

type II a disorder due to deficiency of the lysosomal enzyme α-1,4,-glucosidase, the severe infant form resulting in generalized glycogen accumulation, with cardiomegaly, cardiorespiratory failure, and death, and a milder adult form being a gradual skeletal myopathy that sometimes causes respiratory problems.

type III a form due to deficiency of debrancher enzyme (amylo-1,6-glucosidase) in muscle, liver, or both; defects in the liver enzyme are characterized by hepatomegaly and hypoglycemia while defects in the muscle enzyme are characterized by progressive muscle wasting and weakness.

type IV brancher enzyme deficiency; cirrhosis of the liver, hepatosplenomegaly, progressive hepatic failure, and death due to deficiency of the glycogen brancher enzyme (1,4-α-glucan branching enzyme).

type V muscle cramps and fatigue during exercise due to a defect in the skeletal muscle isozyme of glycogen phosphorylase (muscle phosphorylase).

type VI hepatomegaly, mild to moderate hypoglycemia and mild ketosis, due to deficiency of the liver isozyme of glycogen phosphorylase (hepatic phosphorylase).

type VII muscle weakness and cramping after exercise due to deficiency of the muscle isozyme of 6-phosphofructokinase.

type VIII phosphorylase .

graft-versus-host (GVH) disease  disease caused by the immune response of histoincompatible, immunocompetent donor cells against the tissue of immunocompromised host, as a complication of bone marrow transplantation, or as a result of maternal-fetal blood transfusion, or therapeutic transfusion to an immunocompromised recipient.

Graves' disease  an association of hyperthyroidism, goiter, and exophthalmos, with accelerated pulse rate, profuse sweating, nervous symptoms, psychic disturbances, emaciation, and elevated basal metabolism.

Greenfield's disease  former name for the late infantile form of metachromatic leukodystrophy.

Gull's disease  atrophy of the thyroid gland with myxedema.

Günther disease  congenital erythropoietic porphyria.

H disease  Hartnup d.

Hailey-Hailey disease  benign familial pemphigus.

Hallervorden-Spatz disease  an autosomal recessive disorder caused by decreased numbers of myelin sheaths of the globus pallidus and substantia nigra, with accumulation of iron pigment, progressive rigidity beginning in the legs, choreoathetoid movements, dysarthria, and mental deterioration.

Hand's disease  Hand-Schüller-Christian d.

hand-foot-and-mouth disease  a mild, highly infectious viral disease of children, with vesicular lesions in the mouth and on the hands and feet.

Hand-Schüller-Christian disease  a chronic, progressive form of multifocal Langerhans cell histiocytosis, sometimes with accumulation of cholesterol, characterized by the triad of calvarial bone defects, exophthalmos, and diabetes insipidus.

Hansen's disease  leprosy.

Hartnup disease  a hereditary disorder of intestinal and renal transport of neutral α-amino acids, marked by a pellagra-like skin rash, with transient cerebellar ataxia, constant renal aminoaciduria, and other biochemical abnormalities.

Hashimoto's disease  a progressive disease of the thyroid gland with degeneration of its epithelial elements and replacement by lymphoid and fibrous tissue.

heavy chain diseases  a group of malignant neoplasms of lymphoplasmacytic cells marked by the presence of immunoglobulin heavy chains or heavy chain fragments; they are classified according to heavy chain type, e.g., alpha chain disease.

Heine-Medin disease  the major form of poliomyelitis.

hemoglobin disease  any of various hereditary molecular diseases characterized by abnormal hemoglobins in the red blood cells; the homozygous form is manifested by hemolytic anemia.

hemolytic disease of the newborn  erythroblastosis fetalis.

hemorrhagic disease of the newborn  a self-limited hemorrhagic disorder of the first few days of life, due to deficiency of vitamin K–dependent coagulation factors II, VII, IX, and X.

Hers' disease  glycogen storage d., type VI.

Heubner-Herter disease  the infantile form of celiac disease.

hip-joint disease  tuberculosis of the hip joint.

Hippel's disease  von Hippel's d.

Hirschsprung's disease  congenital megacolon.

His disease , His-Werner disease trench fever.

Hodgkin's disease  a form of malignant lymphoma marked clinically by painless, progressive enlargement of lymph nodes, spleen, and general lymphoid tissue; other symptoms may include anorexia, lassitude, weight loss, fever, pruritus, night sweats, and anemia. Reed-Sternberg cells are characteristically present. Four types have been distinguished on the basis of histopathologic criteria.

hoof-and-mouth disease  foot-and-mouth d.

hookworm disease  infection with the hookworm Ancylostoma duodenale or Necator americanus, whose larvae enter the body through the skin or in contaminated food or water and migrate to the small intestine where, as adults, they attach to the mucosa and ingest blood; symptoms may include abdominal pain, diarrhea, colic or nausea, and anemia.

hyaline membrane disease  a type of respiratory distress syndrome of the newborn in which there is formation of a hyaline-like membrane lining the terminal respiratory passages; extensive atelectasis is attributed to lack of surfactant.

hydatid disease  an infection, usually of the liver, due to larval forms of tapeworms of the genus Echinococcus, marked by development of expanding cysts.

hypophosphatemic bone disease  an inherited disorder resembling a mild form of X-linked hypophosphatemia, similarly due to a defect in renal tubular function but usually showing osteomalacia without radiographic evidence of rickets.

immune complex disease  local or systemic disease caused by the formation of circulating immune complexes and their deposition in tissue, due to activation of complement and to recruitment and activation of leukocytes in type III hypersensitivity reactions.

infectious disease  one due to organisms ranging in size from viruses to parasitic worms; it may be contagious in origin, result from nosocomial organisms, or be due to endogenous microflora from the nose and throat, skin, or bowel.

inflammatory bowel disease  any idiopathic inflammatory disease of the bowel, such as Crohn's disease and ulcerative colitis.

intercurrent disease  one occurring during the course of another disease with which it has no connection.

iron storage disease  hemochromatosis.

ischemic bowel disease  ischemic colitis.

ischemic heart disease  (IHD) any of a group of acute or chronic cardiac disabilities resulting from insufficient supply of oxygenated blood to the heart.

Janský-Bielschowsky disease  the late infantile form of neuronal ceroid lipofuscinosis, occurring between two and four years of age, characterized by abnormal accumulation of lipofuscin; beginning as myoclonic seizures and progressing to neurologic and retinal deterioration and death by age 8 to 12.

jumping disease  any of several culture-specific disorders characterized by exaggerated responses to small stimuli, muscle tics including jumping, obedience even to dangerous suggestions, and sometimes coprolalia or echolalia.

juvenile Paget disease  hyperostosis corticalis deformans juvenilis.

Kashin-Bek (Kaschin-Beck) disease  a disabling degenerative disease of the peripheral joints and spine, endemic in northeastern Asia; believed to be caused by ingestion of cereal grains infected with the fungus Fusarium sporotrichiella.

Katayama disease  schistosomiasis japonica.

Kawasaki disease  a febrile illness usually affecting infants and young children, with conjunctival injection, changes to the oropharyngeal mucosa, changes to the peripheral extremities including edema, erythema, and desquamation, a primarily truncal polymorphous exanthem, and cervical lymphadenopathy. It is often associated with vasculitis of the large coronary vessels.

Kienböck's disease  slowly progressive osteochondrosis of the lunate bone; it may affect other wrist bones.

kinky hair disease  Menkes' syndrome.

Köhler's bone disease 

1. osteochondrosis of the tarsal navicular bone in children.

2. thickening of the shaft of the second metatarsal bone and changes about its articular head, with pain in the second metatarsophalangeal joint on walking or standing.

Krabbe's disease  a lysosomal storage disease beginning in infancy, due to deficiency of β-galactosidase. Pathologically, there is rapidly progressive cerebral demyelination and large globoid bodies (swollen with accumulated cerebroside) in the white substance.

Kufs' disease  the adult form of neuronal ceroid lipofuscinosis, with onset prior to age 40; characterized by progressive neurologic deterioration but not blindness, excessive storage of lipofuscin, and shortened life expectancy;

Kümmell's disease  compression fracture of vertebra, with symptoms a few weeks after injury, including spinal pain, intercostal neuralgia, lower limb motor disturbances, and kyphosis.

Kyasanur Forest disease  a fatal viral disease of monkeys in the Kyasanur Forest of India, communicable to humans, in whom it produces hemorrhagic symptoms.

Kyrle's disease  a chronic disorder of keratinization marked by keratotic plugs that develop in hair follicles and eccrine ducts, penetrating the epidermis and extending down into the corium, causing foreign-body reaction and pain.

Lafora's disease  see under epilepsy.

Leber's disease 

1. Leber's hereditary optic neuropathy.

2. Leber's congenital amaurosis.

legionnaires' disease  an often fatal bacterial infection caused by Legionella pneumophila, not spread by person-to-person contact, characterized by high fever, gastrointestinal pain, headache, and pneumonia; there may also be involvement of the kidneys, liver, and nervous system.

Leiner's disease  a disorder of infancy characterized by generalized seborrhea-like dermatitis and erythroderma, severe intractable diarrhea, recurrent infections, and failure to thrive.

Leriche disease  post-traumatic osteoporosis.

Letterer-Siwe disease  a Langerhans cell histiocytosis of early childhood, of autosomal recessive inheritance, characterized by cutaneous lesions resembling seborrheic dermatitis, hemorrhagic tendency, hepatosplenomegaly, lymphadenitis, and progressive anemia. If untreated it is rapidly fatal. Called also acute disseminated Langerhans cell histiocytosis.

Libman-Sacks disease  see under endocarditis.

Lindau's disease , Lindau-von Hippel disease von Hippel-Lindau d.

Little's disease  congenital spastic stiffness of the limbs, a form of cerebral palsy due to lack of development of the pyramidal tracts.

Lobstein's disease  see osteogenesis imperfecta.

Lou Gehrig disease  amyotrophic lateral sclerosis.

Lowe disease  oculocerebrorenal syndrome.

Lutz-Splendore-Almeida disease  paracoccidioidomycosis.

Lyme disease  a recurrent multisystemic disorder caused by the spirochete Borrelia burgdorferi, the vectors being the ticks Ixodes scapularis and I. pacificus; usually initially characterized by lesions of erythema chronicum migrans, followed by various manifestations including arthritis of the large joints, myalgia, and neurologic and cardiac abnormalities.

lysosomal storage disease  an inborn error of metabolism with (1) a defect in a specific lysosomal enzyme; (2) intracellular accumulation of an unmetabolized substrate; (3) clinical progression affecting multiple tissues or organs; (4) considerable phenotypic variation within a disease.

MAC disease  complex d.

McArdle disease  glycogen storage d., type V.

mad cow disease  bovine spongiform encephalopathy.

Madelung's disease 

1. see under deformity.

2. see under neck.

maple bark disease  hypersensitivity pneumonitis in logging and sawmill workers due to inhalation of spores of a mold, Cryptostroma corticale, growing under the maple bark.

maple syrup urine disease  (MSUD) a hereditary enzyme defect in metabolism of branched chain amino acids, marked clinically by mental and physical retardation, severe ketoacidosis, feeding difficulties, and a characteristic maple syrup odor in the urine and on the body.

Marburg virus disease  a severe, often fatal, viral hemorrhagic fever first reported in Marburg, Germany, among laboratory workers exposed to African green monkeys.

Marchiafava-Micheli disease  paroxysmal nocturnal hemoglobinuria.

Marie-Bamberger disease  hypertrophic pulmonary osteoarthropathy.

Marie-Strümpell disease  ankylosing spondylitis.

Marie-Tooth disease  Charcot-Marie-Tooth d.

Mediterranean disease  thalassemia major.

medullary cystic disease  familial juvenile nephronophthisis.

Meniere's disease  deafness, tinnitus, and dizziness, in association with nonsuppurative disease of the labyrinth.

mental disease  see under disorder.

Merzbacher-Pelizaeus disease  Pelizaeus-Merzbacher d.

metabolic disease  one caused by a disruption of a normal metabolic pathway because of a genetically determined enzyme defect.

Meyer's disease  adenoid vegetations of the pharynx.

Mikulicz's disease  benign, self-limited lymphocytic infiltration and enlargement of the lacrimal and salivary glands of uncertain etiology.

Milroy disease  hereditary permanent lymphedema of the legs due to lymphatic obstruction.

Minamata disease  a severe neurologic disorder due to alkyl mercury poisoning, with permanent neurologic and mental disabilities or death; once prevalent among those eating contaminated seafood from Minamata Bay, Japan.

minimal change disease  subtle alterations in kidney function demonstrable by clinical albuminuria and the presence of lipid droplets in cells of the proximal tubules, seen primarily in young children.

mixed connective tissue disease  a combination of scleroderma, myositis, systemic lupus erythematosus, and rheumatoid arthritis, and marked serologically by the presence of antibody against extractable nuclear antigen.

Möbius disease  ophthalmoplegic migraine.

molecular disease  any disease in which the pathogenesis can be traced to a single molecule, usually a protein, which is either abnormal in structure or present in reduced amounts.

Mondor's disease  phlebitis affecting the large subcutaneous veins normally crossing the lateral chest wall and breast from the epigastric or hypochondriac region to the axilla.

Monge's disease  chronic mountain sickness.

Morquio's disease , Morquio-Ullrich disease see under syndrome.

motor neuron disease , motor system disease any disease of a motor neuron, including spinal muscular atrophy, progressive bulbar paralysis, amyotrophic lateral sclerosis, and lateral sclerosis.

Mycobacterium avium complex disease  MAC disease; systemic disease caused by infection with organisms of the Mycobacterium avium-intracellulare complex in patients with human immunodeficiency virus infection.

Newcastle disease  a viral disease of birds, including domestic fowl, transmissible to humans, characterized by respiratory, gastrointestinal or pulmonary, and encephalitic symptoms.

new variant Creutzfeldt-Jakob disease  (nvCJD) a variant of Creutzfeldt-Jakob disease having a younger age of onset than is seen in Creutzfeldt-Jakob disease, and caused by the same agent that causes bovine spongiform encephalopathy.

Nicolas-Favre disease  lymphogranuloma venereum.

Niemann's disease , Niemann-Pick disease a lysosomal storage disease due to sphingomyelin accumulation in the reticuloendothelial system; there are five types distinguished by age of onset, amount of central nervous system involvement, and degree of enzyme deficiency.

nil disease  minimal change d.

Norrie's disease  an X-linked disorder consisting of bilateral blindness from retinal malformation, mental retardation, and deafness.

notifiable disease  one required to be reported to federal, state, or local health officials when diagnosed, because of infectiousness, severity, or frequency of occurrence.

oasthouse urine disease  methionine malabsorption syndrome.

obstructive small airways disease  chronic bronchitis with irreversible narrowing of the bronchioles and small bronchi with hypoxia and often hypercapnia.

occupational disease  disease due to various factors involved in one's employment.

Oguchi's disease  a form of hereditary night blindness and fundus discoloration following light adaptation.

organic disease  one associated with demonstrable change in a bodily organ or tissue.

Osgood-Schlatter disease  osteochondrosis of the tuberosity of the tibia.

Osler's disease 

1. polycythemia vera.

2. hereditary hemorrhagic telangiectasia.

Owren's disease  parahemophilia.

Paget's disease 

1. (of bone) osteitis deformans.

2. (of breast) an intraductal inflammatory carcinoma of the breast, involving the areola and nipple.

3. an extramammary counterpart of Paget's disease (2), usually involving the vulva, and sometimes other sites, as the perianal and axillary regions.

Parkinson's disease  a slowly progressive form of parkinsonism, usually seen late in life, marked by masklike facies, tremor of resting muscles, slowing of voluntary movements, festinating gait, peculiar posture, muscular weakness, and sometimes excessive sweating and feelings of heat.

Parrot's disease  see under pseudoparalysis.

parrot disease  psittacosis.

Parry's disease  Graves' d.

Pelizaeus-Merzbacher disease  a progressive familial form of leukoencephalopathy, marked by nystagmus, ataxia, tremor, parkinsonian facies, dysarthria, and mental deterioration.

Pellegrini's disease , Pellegrini-Stieda disease calcification of the medial collateral ligament of the knee due to trauma.

pelvic inflammatory disease  (PID) any pelvic infection involving the upper female genital tract beyond the cervix.

periodontal disease  any disease or disorder of the periodontium.

Perthes' disease  osteochondrosis of capitular femoral epiphysis.

Peyronie's disease  induration of the corpora cavernosa of the penis, producing a painful fibrous chordee and penile curvature.

Pfeiffer's disease  infectious mononucleosis.

Pick's disease 

1. progressive atrophy of the cerebral convolutions in a limited area (lobe) of the brain, with clinical manifestations and course similar to Alzheimer's disease.

2. Niemann-Pick d.

polycystic kidney disease , polycystic disease of kidneys either of two unrelated heritable disorders marked by cysts in both kidneys: the autosomal dominant or adult form is more common, appears in adult life, and is marked by loss of renal function that can be either rapid or slow; the autosomal recessive or infantile form is more rare, may be congenital or may appear later in childhood, and almost always progresses to renal failure.

polycystic renal disease  polycystic kidney d..

Pompe's disease  glycogen storage d., type II.

Pott's disease  spinal tuberculosis.

primary electrical disease  serious ventricular tachycardia, and sometimes ventricular fibrillation, in the absence of recognizable structural heart disease.

prion disease  any of a group of fatal, transmissible neurodegenerative diseases, which may be sporadic, familial, or acquired, caused by abnormalities of prion protein metabolism resulting from mutations in the prion protein gene or from infection with pathogenic forms of the protein.

pulseless disease  Takayasu's arteritis.

Raynaud's disease  a primary or idiopathic vascular disorder, most often affecting women, marked by bilateral attacks of Raynaud's phenomenon.

Recklinghausen's disease 

1. neurofibromatosis.

2. (of bone) osteitis fibrosa cystica generalisata.

Refsum's disease  an inherited disorder of lipid metabolism, characterized by accumulation of phytanic acid, chronic polyneuritis, retinitis pigmentosa, cerebellar ataxia, and persistent elevation of protein in cerebrospinal fluid.

remnant removal disease  familial dysbetalipoproteinemia.

reversible obstructive airway disease  a condition characterized by bronchospasm reversible by intervention, as in asthma.

rheumatic heart disease  the most important manifestation and sequel to rheumatic fever, consisting chiefly of valvular deformities.

rheumatoid disease  a systemic condition best known by its articular involvement (rheumatoid arthritis) but emphasizing nonarticular changes, e.g., pulmonary interstitial fibrosis, pleural effusion, and lung nodules.

Ritter's disease  dermatitis exfoliativa neonatorum.

Roger's disease  a ventricular septal defect; the term is usually restricted to small, asymptomatic defects.

runt disease  a graft-versus-host disease produced by immunologically competent cells in a foreign host that is unable to reject them, resulting in gross retardation of host development and in death.

Salla disease  an inherited disorder of sialic acid metabolism characterized by accumulation of sialic acid in lysosomes and excretion in the urine, mental retardation, delayed motor development, and ataxia.

Sandhoff's disease  a type of GM2 gangliosidosis resembling Tay-Sachs disease, seen in non-Jews, marked by a progressively more rapid course, and due to a defect in hexosaminidase, both isozymes A and B.

Schamberg's disease  a slowly progressive purpuric and pigmentary disease of the skin affecting chiefly the shins, ankles, and dorsa of the feet.

Schilder's disease  subacute or chronic leukoencephalopathy in children and adolescents, similar to adrenoleukodystrophy; massive destruction of the white substance of the cerebral hemispheres leads to blindness, deafness, bilateral spasticity, and mental deterioration.

Schönlein's disease  see under purpura.

secondary disease 

1. one subsequent to or as a consequence of another disease.

2. one due to introduction of incompatible, immunologically competent cells into a host rendered incapable of rejecting them by heavy exposure to ionizing radiation.

self-limited disease  one that runs a limited and definite course.

serum disease  see under sickness.

severe combined immunodeficiency disease  (SCID) see under immunodeficiency .

sexually transmitted disease  venereal disease; any of a diverse group of infections transmitted by sexual contact; in some this is the only important mode of transmission, and in others transmission by nonsexual means is possible.

sickle cell disease  any disease associated with the presence of hemoglobin S.

Simmonds' disease  see panhypopituitarism.

sixth disease  exanthema subitum.

small airways disease  chronic obstructive bronchitis with irreversible narrowing of the bronchioles and small bronchi. See also obstructive small airways d.

Smith-Strang disease  methionine malabsorption syndrome.

Spielmeyer-Vogt disease  Vogt-Spielmeyer d.

Steinert's disease  myotonic dystrophy.

Still's disease  juvenile rheumatoid arthritis.

storage disease  a metabolic disorder in which a specific substance (a lipid, a protein, etc.) accumulates in certain cells in unusually large amounts.

storage pool disease  a blood coagulation disorder due to failure of the platelets to release adenosine diphosphate (ADP) in response to aggregating agents; characterized by mild bleeding episodes, prolonged bleeding time, and reduced aggregation response to collagen or thrombin.

Strümpell's disease 

1. hereditary lateral sclerosis with the spasticity mainly limited to the legs.

2. cerebral poliomyelitis.

Strümpell-Leichtenstern disease  hemorrhagic encephalitis.

Strümpell-Marie disease  ankylosing spondylitis.

Sutton's disease 

1. halo nevus.

2. periadenitis mucosa necrotica recurrens.

3. granuloma fissuratum.

Swift's disease , Swift-Feer disease acrodynia.

Takayasu's disease  see under arteritis .

Tangier disease  a familial disorder characterized by a deficiency of high-density lipoproteins in the blood serum, with storage of cholesteryl esters in tissues.

Tarui's disease  glycogen storage d., type VII.

Tay-Sachs disease  (TSD) the most common GM2 gangliosidosis, seen almost exclusively in northeastern European Jews, characterized by infantile onset, doll-like facies, cherry-red macular spot, early blindness, hyperacusis, macrocephaly, seizures, hypotonia, and death in early childhood.

Thomsen's disease  myotonia congenita.

thyrotoxic heart disease  heart disease associated with hyperthyroidism, marked by atrial fibrillation, cardiac enlargement, and congestive heart failure.

transmissible neurodegenerative disease  prion d..

trophoblastic disease  gestational trophoblastic neoplasia.

tsutsugamushi disease  scrub typhus.

tunnel disease  decompression sickness.

uremic bone disease  renal osteodystrophy.

venereal disease  sexually transmitted d.

venoocclusive disease of the liver  symptomatic occlusion of the small hepatic venules caused by ingestion of Senecio tea or related substances, by certain chemotherapy agents, or by radiation.

vinyl chloride disease  acro-osteolysis resulting from exposure to vinyl chloride, characterized by Raynaud's phenomenon and skin and bony changes on the limbs.

Vogt-Spielmeyer disease  the juvenile form of neuronal ceroid lipofuscinosis with onset between ages 5 and 10 years; characterized by rapid cerebroretinal degeneration, excessive neuronal storage of lipofuscin, and death within 10 to15 years.

Volkmann's disease  congenital deformity of the foot due to tibiotarsal dislocation.

von Hippel's disease  hemangiomatosis confined principally to the retina; when associated with hemangioblastoma of the cerebellum, it is known as von Hippel-Lindau d.

von Hippel-Lindau disease  a hereditary condition marked by hemangiomas of the retina and hemangioblastomas of the cerebellum, sometimes with similar lesions of the spinal cord and cysts of the viscera; there may be neurologic symptoms such as seizures and mental retardation.

von Willebrand's disease  an autosomal dominant bleeding disorder characterized by prolonged bleeding time, deficiency of von Willebrand's factor, and often impairment of adhesion of platelets on glass beads, associated with epistaxis and increased bleeding after trauma or surgery, menorrhagia, and postpartum bleeding.

Waldenström's disease  osteochondrosis of the capitular femoral epiphysis.

Weber-Christian disease  nodular nonsuppurative panniculitis.

Werlhof's disease  idiopathic thrombocytopenic purpura.

Wernicke's disease  see under encephalopathy.

Westphal-Strümpell disease  hepatolenticular degeneration.

Whipple's disease  a malabsorption syndrome marked by diarrhea, steatorrhea, skin pigmentation, arthralgia and arthritis, lymphadenopathy, central nervous system lesions, and infiltration of the intestinal mucosa with macrophages containing PAS-positive material.

Whitmore's disease  melioidosis.

Wilson's disease  an inherited, progressive disorder of copper metabolism, with accumulation of copper in liver, brain, kidney, cornea, and other tissues; it is characterized by cirrhosis in the liver, degenerative changes in the brain, and a pigmented ring at the outer margin of the cornea.

Wolman's disease  a lysosomal storage disease due to deficiency of the lysosomal sterol esterase, occurring in infants, and associated with hepatosplenomegaly, adrenal steatorrhea, calcification, abdominal distention, anemia, and inanition.

woolsorter's disease  inhalational anthrax.

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Creutz·feldt-Jakob disease (kroitsflt-)

n. Abbr. CJD

A rare, usually fatal encephalopathy that is likely caused by a prion and is characterized by progressive dementia and gradual loss of muscle control, usually in middle age. Also called Jakob-Creutzfeldt disease.

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Creutzfeldt-Jakob disease

[kroits′felt yä′kôp]

Etymology: Hans G. Creutzfeldt, German neurologist, 1885-1964; Alfons M. Jakob, German neurologist, 1884-1931

a rare fatal encephalopathy caused by infectious prion particles. The disease occurs in middle age. Symptoms are progressive dementia, dysarthria, muscle wasting, and various involuntary movements such as myoclonus and athetosis. Deterioration is obvious week to week. Death ensues, usually within a year. There is no known cure. It is the human variant of mad cow disease. Transmission between humans is unusual, but the disease has been observed years after exposure to needles, instruments, and electrodes previously used in the treatment of a patient with the disease. Isolation is not necessary. Special care in disposal or sterilization of potentially infective items is always necessary. Also called Jakob-Creutzfeldt disease, spastic pseudoparalysis, spastic pseudosclerosis. See also prion disease.

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Creutzfeldt-Jakob Disease

A rare, invariably fatal, kuru-like infection which causes a form of presenile dementia primarily affecting middle-aged adults, caused by a prion
Prognosis No treatment, no cure; CJD progresses rapidly to coma and death in 3 to 12 months

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Creutzfeldt-Jakob disease [kroits´felt-yah´kōp]

a rare prion disease, associated with a number of different mutations of the prion protein gene. There are sporadic, infectious, and familial forms, the last inherited as an autosomal dominant trait, with onset usually in middle life, and a wide variety of clinical and pathological features. The most commonly seen are varying degrees of spongiform degeneration of neurons, neuronal loss, gliosis, and amyloid plaque formation, with rapidly progressive dementia. Death may come soon or after several years. Most cases are sporadic, although infectious cases may occur after surgical procedures or injection of hormone from infected pituitary glands. New variant Creutzfeld-Jakob disease is a variant seen almost exclusively in the United Kingdom, caused by the same agent that causes bovine spongiform encephalopathy ("mad cow disease") in cattle.

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Creutzfeldt-Jakob disease

Spastic pseuodoparalysis, subacute spongiform encephalopathy Neurology An invariably fatal, kuru-like infection which causes a form of presenile dementia primarily affecting middle-aged adults, caused by an aberrant protein, a prion Clinical 2-4 yrs after exposure → pyramidal tract disease with Babinski sign, nervousness, loss of facial expression; cerebellar dysfunction with ataxia, myoclonus, unsteady gait; basal ganglia involvement is manifest by rigidity, bradykinesia, intention tremor, dystonic postures, choreoathetosis, muscle spasms, imbalance, dementia Prognosis No treatment, no cure; CJD progresses rapidly to coma and death in 3 to 12 months. See Bovine spongiform encephalopathy, Kuru, Prion, Scrapie.

Creutzfeld-Jakob disease agent–disinfection

Inactivated by autoclaving for 1 hour at 132ºC and 20 psi, 5% hypochlorite, and 0.03% permanganate solutions. Instruments 0.1 N sodium hydroxide for 2 hours; 5% bleach–NaOCl for 4 hours; all surfaces should be scrubbed with iodine or phenol-based detergents

NOT inactivated by boiling, 10% formalin, 70% alcohol, UV light