Facioscapulohumeral Muscular Dystrophy (FSHD)
What is facioscapulohumeral muscular dystrophy?
Facioscapulohumeral muscular dystrophy (FSHD) is one of nine forms of muscular dystrophy. It is characterized by progressive muscle weakness and wasting, specifically in the muscles of the shoulder blades, face, and upper arms; however, other muscles may also be affected.
FSHD is the third most common form of muscular dystrophy, with an estimated prevalence of four cases per 100,000 people.
What are the symptoms of facioscapulohumeral muscular dystrophy?
The onset of symptoms is typically before the age of 20, with muscle weakness and atrophy beginning in the muscles of the eyes, mouth, abdominal muscles, lower legs, upper arms, and shoulders. This weakness is often asymmetric, meaning that one side of the body is weaker than the other.
A minority of cases see the onset of symptoms during infancy, and these affected individuals can experience additional symptoms, such as issues with hearing and vision.
What causes facioscapulohumeral muscular dystrophy?
A mutated DUX4 gene causes FSHD. It is inherited in an autosomal dominant pattern, but it can also be the result of a sporadic mutation. In a much smaller portion of cases, the SMCHD1 gene is mutated.
How is facioscapulohumeral muscular dystrophy diagnosed?
Doctors will start with a physical examination, followed by looking for the characteristic symptoms, reviewing medical and family history, and testing. Doctors may use a muscle biopsy, blood test, or genetic test to aid in diagnosis.
What are the treatments for facioscapulohumeral muscular dystrophy?
A team of specialists are able to provide the best care for FSHD patients. Braces, walkers, and other aids may be necessary. Occupational and physical therapy are beneficial to patients as well. Further treatment is symptomatic.
