Charcot-Marie-Tooth disease

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1. decrease in size of a normally developed organ or tissue; see also wasting.
2. to undergo or cause such a decrease. adj., adj atroph´ic.
acute yellow atrophy massive hepatic necrosis.
circumscribed cerebral atrophy pick's disease.
disuse atrophy atrophy of a tissue or organ as a result of inactivity or diminished function.
gyrate atrophy of choroid and retina a rare hereditary, slowly progressive atrophy of the choroid and pigment epithelium of the retina; inherited as an autosomal recessive trait.
juvenile spinal muscular atrophy Kugelberg-Welander syndrome.
Leber's optic atrophy Leber's optic neuropathy.
lobar atrophy pick's disease.
myelopathic muscular atrophy muscular atrophy due to lesion of the spinal cord, as in spinal muscular atrophy.
olivopontocerebellar atrophy any of a group of progressive hereditary disorders involving degeneration of the cerebellar cortex, middle peduncles, ventral pontine surface, and olivary nuclei. They occur in the young to middle-aged and are characterized by ataxia, dysarthria, and tremors similar to those of parkinsonism.
peroneal atrophy (peroneal muscular atrophy) progressive neuromuscular atrophy.
progressive neuromuscular atrophy hereditary muscular atrophy beginning in the muscles supplied by the fibular (peroneal) nerves, progressing slowly to involve the muscles of the hands and arms. Called also peroneal or peroneal muscular atrophy and Charcot-Marie-Tooth disease.
senile atrophy the natural atrophy of tissues and organs occurring with advancing age.
spinal muscular atrophy progressive degeneration of the motor cells of the spinal cord, beginning usually in the small muscles of the hands, but in some cases (scapulohumeral type) in the upper arm and shoulder muscles, and progressing slowly to the leg muscles. Called also Aran-Duchenne disease, Cruveilhier's disease, and Duchenne's disease.
subacute yellow atrophy submassive necrosis of the liver associated with broad zones of necrosis, due to viral, toxic, or drug-induced hepatitis; it may have an acute course with death from liver failure occurring after several weeks, or clinical recovery may be associated with regeneration of the parenchymal cells.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

per·o·ne·al mus·cu·lar at·ro·phy

a generic title for at least three distinct hereditary neuromuscular disorders, all of which share the common features of pes cavis and marked wasting of the more distal portion of the limbs, particularly the peroneal muscle groups (resulting in the characteristic "stork legs"). Included in this designation are hereditary motor and sensory neuropathy, type I (formerly known as Charcot-Marie-Tooth, type I, or the hypertrophic type of peroneal muscular atrophy); hereditary and motor sensory neuropathy, type II (formerly known as Charcot-Marie-Tooth, type II, or the neuronal type of peroneal muscular atrophy); and distal hereditary motor neuronopathy (formerly known as Charcot-Marie-Tooth, type III, the spinal type of peroneal muscular atrophy, or distal spinal muscular atrophy).
Farlex Partner Medical Dictionary © Farlex 2012

Charcot-Marie-Tooth disease

(shär-kō′mə-rē′to͞oth′, -mä-)
Any of several hereditary disorders that affect the peripheral nerves, characterized by progressive wasting of the distal muscles of the extremities and usually affecting the legs and feet before the arms and hands.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

Charcot-Marie-Tooth disease

Hereditary peroneal nerve dysfunction Neurology A clinically heterogenous and most common–1:2500 of the inherited peripheral neuropathies Clinical Slowly progressive atrophy of distal muscles, especially those innervated by the peroneal nerve, leading to muscular weakness and atrophy of hands, feet, and legs with pes cavus deformity, claw-hand, stork-leg appearance, with foot drop and a slapping gait EMG ↓ nerve conduction velocity, due to destruction of nerves with degeneration of myelin sheath Management Nada
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

per·o·ne·al mus·cu·lar at·ro·phy

(per'ŏ-nē'ăl mŭs'kyū-lăr at'rŏ-fē)
A group of familial peripheral neuromuscular disorders, sharing the common feature of marked wasting of the distal parts of the limbs, particularly the peroneal muscle groups, resulting in "stork legs."
Synonym(s): Charcot-Marie-Tooth disease.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Charcot-Marie-Tooth disease

A hereditary nervous system disorder caused by three copies of a gene on chromosome 17. The disease features atrophy of the muscles of the lower legs, followed by atrophy of the small muscles of the hands. There is no effective treatment. (Jean-Martin Charcot, 1825–1893, French neurologist; Pierre Marie, 1853–1940, French neurologist; and Howard Henry Tooth, 1856–1926, English physician).
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005


Jean Martin, French neurologist, 1825-1893.
Charcot arteries - any one of a variety of small cerebral arteries. Synonym(s): lenticulostriate arteries
Charcot arthritis
Charcot arthropathy
Charcot bath - for patients with arterial disorders.
Charcot change
Charcot disease - Synonym(s): Lou Gehrig disease
Charcot fever - Synonym(s): Charcot intermittent fever
Charcot gait - the gait of hereditary ataxia.
Charcot intermittent fever - fever, chills, right upper quadrant pain, and jaundice associated with intermittently obstructing common duct stones. Synonym(s): Charcot fever
Charcot joint - a neuropathic arthropathy that occurs with tabes dorsalis (tabetic neurosyphilis). Synonym(s): tabetic arthropathy
Charcot laryngeal vertigo - fainting as a result of a coughing spell, most often occurring in heavy-set male smokers with chronic bronchitis. Synonym(s): Charcot vertigo; tussive syncope
Charcot spine
Charcot syndrome - a condition caused by ischemia of the muscles. Synonym(s): intermittent claudication
Charcot triad - (1) in multiple (disseminated) sclerosis, the three symptoms: nystagmus, tremor, and scanning speech; - (2) combination of jaundice, fever, and upper abdominal pain that occurs as a result of cholangitis.
Charcot vertigo - Synonym(s): Charcot laryngeal vertigo
Charcot-Böttcher crystalloids - spindle-shaped crystalloids found in human Sertoli cells.
Charcot-Leyden crystals - crystals found in the sputum in bronchial asthma. Synonym(s): asthma crystals; Charcot-Neumann crystals; Charcot-Robin crystals; Leyden crystals
Charcot-Marie-Tooth disease - a group of three familial peripheral neuromuscular disorders, sharing the common feature of marked wasting of the more distal extremities. Synonym(s): peroneal muscular atrophy; Tooth disease
Charcot-Neumann crystals - Synonym(s): Charcot-Leyden crystals
Charcot-Robin crystals - Synonym(s): Charcot-Leyden crystals
Charcot-Weiss-Baker syndrome - stimulation of a hyperactive carotid sinus, causing a marked fall in blood pressure. Synonym(s): carotid sinus syndrome
Charcot-Wilbrand syndrome - inability to recognize objects by sight, usually caused by bilateral parieto-occipital lesions.
Erb-Charcot disease - see under Erb


Pierre, French neurologist, 1853-1940.
Bamberger-Marie disease - Synonym(s): Bamberger-Marie syndrome
Bamberger-Marie syndrome - see under Bamberger, Eugen
Brissaud-Marie syndrome - see under Brissaud
Charcot-Marie-Tooth disease - see under Charcot
Debré-Marie syndrome - see under Debré
Foix-Cavany-Marie syndrome - see under Foix
Marie ataxia - obsolete term for a variety of non-Friedreich hereditary ataxias.
Marie-Leri syndrome - swelling of deformed joints.
Marie-Sainton syndrome - excessive head development. Synonym(s): cleidocranial dysplasia; cleidocranial dysostosis
Marie-Strümpell disease - Synonym(s): Strümpell-Marie disease
Marie I syndrome - Synonym(s): Menzel syndrome
Marie II syndrome - endocrine and neurologic disorders.
Nonne-Marie syndrome - Synonym(s): Menzel syndrome
Strümpell-Marie disease - see under Strümpell


Howard H., English physician, 1856-1925.
Charcot-Marie-Tooth disease - see under Charcot
Tooth disease - Synonym(s): Charcot-Marie-Tooth disease
Medical Eponyms © Farlex 2012
References in periodicals archive ?
Can the Bournemouth Questionnaire be used as an appropriate outcome measure of non-specific musculoskeletal pain in individuals suffering from Charcot-Marie-Tooth disease?
Molecular cell biology of Charcot-Marie-Tooth disease. Neurogenet.
Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.
Reliability of clinical outcome measures in Charcot-Marie-Tooth disease. Neuromuscul Disord 2008;18:19-26.
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP): a European collaborative study.
A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A.
The same mutation Glu208Lys in the GJB1 gene was detected in 2 families with X-linked Charcot-Marie-Tooth disease (in Chinese).
Localization of PMP-22 gene (candidate gene for the Charcot-Marie-Tooth disease type 1A) to band 17p11.2 by direct R-banding fluorescence in situ hybridization.
Charcot-Marie-Tooth disease encompasses a heterogeneous group of inherited, progressive, chronic peripheral neuropathies.
In this issue, attention was drawn to rare neurological diseases, including Charcot-Marie-Tooth disease (CMT), paroxysmal kinesigenic dyskinesia (PKD), autoimmune encephalitis, cubital tunnel syndrome, and dermatomyositis.
The peripheral myelin gene PMP22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.

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