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 difficulty such as eye closure, lifting or tripping. The disease is caused by degeneration of muscle due to a specific chromosomal deletion. This deletion is inherited from one generation to the next.

Diagnosis

The diagnosis of FSH dystrophy is based on the clinical history, including a family history, physical examination and genetic studies. A definitive diagnosis is usually possible by a blood test for the chromosomal deletion causing FSH dystrophy. Our genetics 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, of various 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 from inflammation or toxic exposure.

Treatment

Treatment of FSH dystrophy is by 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. Also on the same day, the patient will be evaluated for the need for splints and orthotics to help with hand or foot function. Equipment needs as well as social and financial needs are addressed. Patients with FSH dystrophy may have hearing loss or a retinal vasculopathy and these associated disorders are screened for and referred to additional Johns Hopkins specialists as needed.