Muscular dystrophies are a group of inherited muscle disorders in which one or more genes needed for normal muscle structure and function are defective, leading to muscle weakness and muscle wasting (dystrophy) of varying severity.
Facioscapulohumeral muscular dystrophy (FSHMD) is inherited via an autosomal dominant gene. Therefore, a single abnormal gene is sufficient to cause the disorder, and the disorder can appear in either males or females. It is the most common form of muscular dystrophy and occurs in about 7 out of 1,000 people.
Symptoms of facioscapulohumeral muscular dystrophy usually begin gradually between the ages of 7 and 20. The facial and shoulder muscles are always affected, so a child has difficulty whistling, closing the eyes tightly, or raising the arms. Some people with the disease also develop a footdrop (the foot flops down). People also frequently have hearing loss and eye problems.
The weakness is rarely severe, and many people are not disabled and have a normal life expectancy. However, other people need to use a wheelchair in adulthood. In one form that develops in infancy, children have rapidly progressive muscle weakness and severe disability.
The diagnosis of facioscapulohumeral muscular dystrophy is based on characteristic symptoms, the person's age when symptoms began, family history, and the results of genetic testing.
There is no treatment for the weakness, but physical therapy may help maintain muscle function.
The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
Muscular Dystrophy Association: Information on research, treatment, technology, and support for people living with facioscapulohumeral muscular dystrophy