Facioscapulohumeral (FSH) Muscular Dystrophy

Also known as:  FSH, muscular dystrophy, FSHD

What is facioscapulohumeral muscular dystrophy?

Facioscapulohumeral muscular dystrophy is a common muscular dystrophy which affects certain muscles of the body causing muscle weakness and wasting (atrophy).

The condition gets its name from the areas that it usually affects most:

  • the face (fascia),
  • shoulder blades (scapula)
  • and upper arms (humeral).
While the onset and severity varies (mild cases may present later in life while rare severe cases may have sign and symptoms in infancy). Usually clinical abnormalities appear during adolescence.

What causes facioscapulohumeral muscular dystrophy?

Facioscapulohumeral muscular dystrophy is caused by genetic changes on chromosome 4 passed along from at least one parent (autosomal dominant inheritance) to a child. It can affect both males and females.

What are the symptoms of facioscapulohumeral muscular dystrophy?

As the disease progresses, facioscapulohumeral muscular dystrophy causes the muscles of the upper arms, shoulders and face to grow gradually weaker until movement becomes difficult. Muscle weakness often occurs more, for example in one arm or leg with pain on movement which can be mistaken for a sports injury. Muscles of the rib cage, belly and back may also be affected resulting in a protuberant belly and a curved spine (lordosis). There may be difficulty closing the eyes during sleep or whistling and affected children may not be able to drink through a straw.

What are facioscapulohumeral muscular dystrophy care options?

While there is no cure for Facioscapulohumeral muscular dystrophy, a multidisciplinary team of pediatric specialists will ensure that your child is provided with an individualized treatment program which might include medications, splints, exercise program/rehabilitation and surgical interventions to allow your child the best life possible.

Reviewed by: Jack Wolfsdorf MD.

This page was last updated on: August 19, 2020 11:40 AM

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