Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral (FSH) dystrophy is a common muscular dystrophy in which there is progressive weakness of the face, upper arms, and shoulder regions, as well as the legs. The symptoms of FSH dystrophy may appear during childhood with severe facial and limb weakness or develop slowly and gradually in adulthood with progressive difficulty closing the eyes, moving the face, lifting objects or walking. The disease is caused by degeneration of muscle due to a specific chromosomal deletion. This deletion is inherited from one generation to the next and affects both men and women.

Diagnosis:

The diagnosis of FSH dystrophy is based on the clinical assessment, including a family history, physical examination and genetic studies. A definitive diagnosis is usually possible through a blood test for the chromosomal deletion causing FSH dystrophy. Our genetic counselor will carefully review the history of disease with each patient, discuss the principles of inheritance, and help weigh risks and benefits of genetic testing for the patient and, if indicated, other family members. Occasionally, a patient will have a clinical appearance atypical for FSH dystrophy and other laboratory studies, including electrodiagnostic testing (EMG) and muscle biopsy, may be performed prior to genetic testing. Muscle biopsy is often helpful to determine if weakness is caused by muscular dystrophy, an inherited disorder, or by other, acquired causes of muscle degeneration such as inflammation or toxic exposure.

Treatment:

Treatment of FSH dystrophy involves a multidisciplinary team. A neurologist oversees the various needs of the patient and directs care. Specialists in rehabilitation medicine are present to meet with patients and provide individualized exercise and stretching programs for the treatment of weakness and contractures. Patients can also be evaluated for the need for splints, orthotics, or other equipment to help with hand or foot function. Social and financial needs can also be addressed. Some patients with FSH dystrophy may have hearing loss or abnormalities of the blood vessels in the eye. We will screen for these associated disorders and treat as necessary.