A group of disorders characterized by progressive muscle weakness and loss of muscle tissue.
Causes, incidence, and risk factors
The group of diseases called muscular dystrophies (MD) includes many inherited disorders such as:
Becker's muscular dystrophyDuchenne muscular dystrophyfacioscapulohumeral muscular dystrophy limb-girdle muscular dystrophy Emery-Dreifuss muscular dystrophy myotonic dystrophy myotonia congenita
These disorders are distinguished from each other by the type of inheritance (sex-linked, dominant gene , recessive gene ), the age when symptoms appear, and the types of symptoms that develop. Because these are inherited disorders, risks include a family history of muscular dystrophy.
Lambert-Eaton syndrome and myasthenia gravis also have symptoms that may be similar to early stages of some types of muscular dystrophies, so these disorders must be ruled out when muscular dystrophies are diagnosed.
Signs and tests
Examination and history help to distinguish the type of MD. Specific muscle groups are affected by different types of MD. Often, there is a loss of muscle mass ( wasting ), which may be disguised in some types of muscular dystrophy by an accumulation of fat and connective tissuethat makes the muscle appear larger (pseudohypertrophy). Joint contractures are common. Shortening of the muscle fibers, fibrosis of the connective tissue and scarring slowly destroy muscle function. Some types of MD involve the heart muscle, causing cardiomyopathy or arrhythmias . A muscle biopsy may be the primary test used to confirm the diagnosis. In some cases a DNA test from the blood may be sufficient.
A serum CPK (an enzyme found in muscle) may be elevated.
An EMG ( electromyography ) may confirm that weakness is caused by destruction of muscle tissue rather than damage to nerves.
An ECG (electrocardiography) to monitor changes in cardiac status.
This disease may also alter the results of the following tests:
myoglobin - urine/ serumLDHcreatinineASTaldolase
Support groups
The stress of illness can often be helped by joining support groups where members share common experiences and problems. See muscular dystrophy - support group .
Expectations (prognosis)
The outcome varies with the type of muscular dystrophy. All types of MD progressively worsen, but the speed of decline and extent of disability they cause varies widely. Some types are fatal.
Calling your health care provider
Call your health care provider if the symptoms suggestive of muscular dystrophy occur.
Call your health care provider if there is a personal or family history of muscular dystrophy and you are planning to have children.
Prevention
Genetic counseling is advised when there is a family history of muscular dystrophy. Women may be asymptomatic but still be carriers of the gene for the disorder. Duchenne muscular dystrophy can be detected with about 95 percent accuracy by genetic studies performed during pregnancy .