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A gene on chromosome 14q11.2-q13 that encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. PABPN1 is required for progressive and efficient polymerisation of poly(A) tails at the 3' ends of eukaryotic transcripts, and it controls the size of the poly(A) tail to roughly 250 nucleotides.

Molecular pathology
PABPN1 contains GCG trinucleotide repeats at the 5' end of the coding region; expansion of GCG repeats from the normal 6 copies to 8–13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy.


(dis'tro-fe) [ dys- + -trophy]
A disorder caused by defective nutrition or metabolism. dystrophic (dis-tro'fiik), adjective

adiposogenital dystrophy

Fröhlich syndrome.

asphyxiating thoracic dystrophy

Jeune syndrome.

Becker muscular dystrophy

See: Becker muscular dystrophy

Bietti crystalline dystrophy

See: Bietti crystalline dystrophy

cone-rod dystrophy

A form of retinitis pigmentosa in which central visual loss occurs first. Common symptoms include progressive visual loss followed by the loss of color perception, and eventually peripheral visual loss and night blindness. The visual loss is not correctable with standard lenses. See: retinitis pigmentosa

congenital hereditary endothelial dystrophy

Abbreviation: CHED
An eye disorder in which the corneal endothelium becomes cloudy, resulting in myopia.

corneal dystrophiy

Any of several inherited disorders in which the cornea becomes cloudy, hazy, or speckled, resulting in variable degrees of visual loss.

corneoretinal dystrophy

Bietti crystalline dystrophy.

distal muscular dystrophy

Abbreviation: DD
One of several rare forms of muscular dystrophy in which the forearm, hand, calf, and foot muscles are primarily affected as opposed to the muscles of the shoulders or pelvic girdle. Its onset is usually in adults between the ages of 40 and 60. Synonym: distal myopathy

Duchenne muscular dystrophy

See: Duchenne, Guillaume B. A.

Emery-Dreifuss muscular dystrophy

See: Emery-Dreifuss muscular dystrophy

facioscapulohumeral muscular dystrophy

A hereditary, progressive muscular dystrophy with onset in childhood or adolescence. It is marked by atrophic changes in the muscles of the shoulder girdle and face, inability to raise the arms above the head, myopathic facies, eyelids that remain partly open in sleep, and inability to whistle or purse the lips.


Therapy is supportive; e.g., orthopedic devices can be used to prevent functional losses at the shoulder girdle. The patient should be encouraged to maintain as full and normal a life as possible and to avoid prolonged bed rest.

macular dystrophy

Any inherited, progressive degeneration of the macula lutea retinae marked by progressive central visual loss beginning in childhood or adolescence. Representative forms of macular dystrophy include Best disease and Stargardt disease. See: macula lutea retinae

muscular dystrophy

Any of nine distinct genetic syndromes that affect muscular strength and action, some of which first become obvious in infancy, whereas others manifest in adolescence or young adulthood. The syndromes are marked by either generalized or localized muscle weakness, difficulties with walking or maintaining posture, muscle spasms, and sometimes neurological, behavioral, cardiac, or other functional limitations. Detailed information about the disease can be obtained from the Muscular Dystrophy Association website at www.mdausa.org.

myotonic dystrophy

Abbreviation: DM
An autosomal dominant disorder caused by the repeated expansion of the trinucleotide sequence cytosine-thymidine-guanine (CTG)) in the DNA of chromosome 19. It is the most commonly inherited of the muscular dystrophies.

oculopharyngeal muscular dystrophy

Abbreviation: OPMD
A rare form of muscular dystrophy in which muscles that control the eyelids and swallowing are primarily affected. Ptosis and dysphagia beginning in the patient's late 40s or early 50s are characteristic symptoms. Weakness in the limbs often follows. The disease occurs most often in French-Canadian or Hispanic kindreds.

progressive muscular dystrophy

Spinal muscular atrophy.

pseudohypertrophic muscular dystrophy

Duchenne muscular dystrophy.

reflex sympathetic dystrophy

An abnormal response of the nerves of the face or of an extremity, marked by pain, autonomic dysfunction, vasomotor instability, and tissue swelling. Although the precise cause of the syndrome is unknown, it often follows trauma, stroke, neuropathy, or radiculopathy. In about one third of all patients, the onset is insidious. Affected patients often complain of burning pain with any movement of an affected body part, excessive sensitivity to light touch or minor stimulation, temperature changes (heat or cold) in the affected limb, localized sweating, localized changes of skin color, or atrophic changes in the skin, nails, or musculature. Synonym: algodystrophy; complex regional pain syndrome, type 1; shoulder-hand syndrome; Sudeck disease


Early mobilization of the body part with multimodality therapy may improve the symptoms of reflex sympathetic dystrophy. Drug therapies often include prednisone or other corticosteroids and narcotic analgesics; trancutaneous electrical stimulation, physical therapy, or nerve blocks may also prove helpful.

rod-cone dystrophy

A form of retinitis pigmentosa in which rod degeneration precedes cone degeneration. Night blindness is usually the first symptom, followed by peripheral visual loss.

Schnyder crystalline dystrophy

See: Schnyder crystalline dystrophy

twenty-nail dystrophy

Longitudinal ridging and fragmentation of all the fingernails and toenails. It is a characteristic finding in lichen planus.

vitelliform dystrophy

Vitelliform macular dystrophy.

vitelliform macular dystrophy

An autosomal dominant retinal disease in which central visual acuity is diminished when lipofuscin accumulates under the macula. When the disease occurs in childhood, it is called Best disease.

vulvar dystrophy

Lichen sclerosus et atrophicus.

oculopharyngeal muscular dystrophy

Abbreviation: OPMD
A rare form of muscular dystrophy in which muscles that control the eyelids and swallowing are primarily affected. Ptosis and dysphagia beginning in the patient's late 40s or early 50s are characteristic symptoms. Weakness in the limbs often follows. The disease occurs most often in French-Canadian or Hispanic kindreds.
See also: dystrophy

Oculopharyngeal muscular dystrophy (OPMD)

This type of muscular dystrophy affects adults of both sexes, causing weakness in the eye muscles and throat.
Mentioned in: Muscular Dystrophy
References in periodicals archive ?
Tobacco smoking and chewing are implicated strongly in the etiology of OPMD such as leukoplakia, OSMF, and erythroplakia.
Shilpashree and Sarapur [18] have mentioned that smoking, which is a major causative factor for OPMD and OSCC, can alter the Ig profile of the saliva.
This is similar to the present study where no significant change was observed in serum IgA between control group and OPMD group.
The present study showed significant increase between control and OPMD groups and also between control and OSCC groups.
22] Since increased age, tobacco habits such as smoking, and periodontal disease are found in individuals with OPMD and OSCC, we could not completely eliminate these confounding factors from the present study.
12] Both the genealogical and molecular data suggested that the ancestors of the Uruguayan population with OPMD were settlers in the Canary Islands in the 19th century, [12] with the possibility that the mutation arose between the 10th and 14th centuries in the Old World.
The patients in the current study presented with typical symptoms and signs of autosomal dominant OPMD.
Interestingly, two of our patients also showed mild weakness of the tibialis anterior muscles, and one of the older patients also had clear weakness of finger extension, uncommonly seen in OPMD.
Involvement of the peripheral nerves in OPMD has been debated in the past decade.