muscular dystrophy

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Related to muscular dystrophy: multiple sclerosis, Duchenne muscular dystrophy

muscular dystrophy

(dĭs`trōfē), any of several inherited diseases characterized by progressive wasting of the skeletal muscles. There are five main forms of the disease. They are classified according to the age at onset of symptoms, the pattern of inheritance, and the part of the body primarily affected.

Types of Muscular Dystrophy

The most common form of muscular dystrophy, Duchenne, was first described by the French physician Guillaume Benjamin Amand DuchenneDuchenne, Guillaume Benjamin Amand
, 1806–75, French physician. He is noted for researches on diseases of the muscular and nervous systems and for his pioneer work on the use of electricity in the diagnosis and treatment of disease.
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 in 1861. Most cases are caused by a recessive sex-linked gene located on the X chromosome and carried only by females. Each son of a carrier has a 50% chance of inheriting the gene and developing the disease. Each daughter has a 50% chance of inheriting the gene and becoming a carrier. In small number of "sporadic" cases there is no family history. The disease begins with leg weakness before age 3 and progresses rapidly, with death often occurring before age 30, often because of involvement of lung or heart muscle. Research has shown that the abnormal gene fails to produce an essential skeletal muscle protein called dystrophin. Becker's muscular dystrophy is similar to the Duchenne form, but appears somewhat later in life and progresses more slowly.

Fascioscapulohumeral muscular dystrophy primarily involves facial and shoulder muscles and affects both sexes. Symptoms can begin from adolescence to around age 40. It is caused by an autosomal dominant trait (at least one parent will have the disease). Progression is usually slow and severe disability is unusual.

Myotonic muscular dystrophy is another autosomally dominant disease affecting both sexes. It appears to be caused by the repetition of a section of DNA on chromosome 4. In a surprising development, researchers found that the number of repetitions on the chromosome increase and the disease becomes more severe with each generation. It is characterized by an inability of the muscles to relax properly after contraction and primarily affects the muscles of the hands and feet. It usually begins in adulthood and is often accompanied by cataracts, baldness, and abnormal endocrine function.

The limb-girdle form of the disease first affects the muscles of the hip and shoulder areas. Symptoms usually become apparent in late adolescence or early adulthood. Caused by an autosomal recessive trait (carried by a gene passed on by both asymptomatic parents), it can affect males and females alike. This form usually progresses slowly.


There is no known cure for muscular dystrophy. Corticosteriods may slow the destruction of muscle tissue in persons with Duchenne muscular dystrophy, and phenytoin, procainamide, or quinine is used to treat delayed muscle relaxation in myotonic muscular dystrophy. Scientists have identified genetic abnormalities responsible for multiple dystrophy, and some treatments focusing on those mutations are being explored. Exon-skipping drugs, which use RNA-splicing to allow muscle cells to produce a form of dystrophin that can function, are being studied for Duchenne muscular dystrophy, and one such drug has been approved for patients with one genetic mutation. Supportive measures and exercises can improve the quality of life and preserve mobility for as long as possible. Genetic screening is recommended for all family members who might be carriers. Prenatal tests such as chorionic villus samplingchorionic villus sampling
(CVS) or chorionic villus biopsy
(CVB) , diagnostic procedure in which a sample of chorionic villi from the developing placenta is removed from the uterus of a pregnant woman (see pregnancy) using a fine needle inserted through the abdomen or
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 and amniocentesisamniocentesis
, diagnostic procedure in which a sample of the amniotic fluid surrounding a fetus is removed from the uterus by means of a fine needle inserted through the abdomen of the pregnant woman (see pregnancy).
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 can detect some forms of muscular dystrophy early in a pregnancy.


See A. E. H. Emery, Muscular Dystrophy: The Facts (1994).

The Columbia Electronic Encyclopedia™ Copyright © 2013, Columbia University Press. Licensed from Columbia University Press. All rights reserved.

muscular dystrophy

[′məs·kyə·lər ′dis·trə·fē]
A group of diseases characterized by degeneration of or injury to individual muscle cells, not primarily involving the nerve supply; the most common form is Duchenne-Greisinger disease.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.

muscular dystrophy

a genetic disease characterized by progressive deterioration and wasting of muscle fibres, causing difficulty in walking
Collins Discovery Encyclopedia, 1st edition © HarperCollins Publishers 2005
References in periodicals archive ?
The researchers inserted a gene that produced a steady supply of EGF into the muscle of a mouse model of Duchenne muscular dystrophy before symptoms of the disease began.
The present study has shown that various functions of the oro-facial complex got affected in Duchene muscular dystrophy. Lip and posterior bite force exhibited lower values.
* A review of the Becker Muscular Dystrophy products under development by companies and universities/research institutes based on information derived from company and industry-specific sources
Duchenne muscular dystrophy occurs in approximately 1 out of every 3,600 male births.
Duchenne muscular dystrophy. J Paediatr Child Health.
[2,3] In MDs, Duchenne muscular dystrophy (DMD; OMIM #310200) and milder allelic Becker muscular dystrophy (BMD; OMIM #300376) are most commonly observed forms in humans.
Five year-old Kirath Mann penned the heartwrenching letter to David Cameron as he continues to battle the muscle-wasting condition Duchenne muscular dystrophy, which leaves many children in a wheelchair before their 10th birthday.
This month NHS England is expected to make a decision on whether to fund Translarna, the first treatment developed for sufferers of Duchenne muscular dystrophy.
Abbi Bennett, aged six, suffers from Ullrich muscular dystrophy, which affects one in a million people.
The Muscular Dystrophy Campaign needs recruits for the annual Wirral Coastal Walk, which this year will see an estimated 4,000 walkers of all ages go the distance for charity on Sunday May 11.

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