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Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy Causes

About 95% of facioscapulohumeral muscular dystrophy can be associated to the deletion of the important copies of the 3.2kb unit of the human genome. Disease usually occurs due to the translocation of the chromosomes.

Facioscapulohumeral muscular dystrophy Definition

Facioscapulohumeral muscular dystrophy is also commonly known by another medical term as Landouzy-Dejerine. This is categorized as an autosomal dominant type of muscular dystrophy that primarily affects the patient's skeletal muscles of the scapula, face and upper arms. It is categorized as one of the most common genetic disorder that affects the skeletal muscle. The symptoms gradually develop and can become increasingly evident during the teenage years.

Facioscapulohumeral muscular dystrophy Diagnosis

Diagnosis involves genetic testing to measure the size of D4Z4 deletion. However, this type of test can be very expensive. Other alternative testing include electromyogram, creatine kinase, muscle biopsy as well as nerve conduction velocity.

Facioscapulohumeral muscular dystrophy Symptoms and Signs

Common indicators for facioscapulohumeral muscular dystrophy include depressed and often angry expression, hearing loss, abnormal heart rhythm, shoulder weakness, loss of abdominal strength, unequal weakening of the triceps, deltoids, biceps, as well as foot drop.

Facioscapulohumeral muscular dystrophy Treatment

There are currently no existing approved therapies to treat facioscapulohumeral muscular dystrophy. Occupational therapies are believed to considerably help patients cope with the said disease.

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