Everything about Facioscapulohumeral Muscular Dystrophy totally explained
Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH), which is also known as Landouzy-Dejerine, is an autosomal dominant form of
muscular dystrophy that initially affects the
skeletal muscles of the face (facio),
scapula (scapulo) and upper arms (
humeral). It is the third most common
genetic disease of skeletal
muscle. Symptoms may develop in early childhood and are usually noticeable in the teenage years with 95% of affected individuals manifesting disease by age 20 years. A progressive skeletal muscle weakness usually develops in other areas of the body as well; often the weakness is asymmetrical.
Life expectancy is normal, but up to 15% of affected individuals become severely disabled and eventually must use a
wheel chair. Non-muscular symptoms frequently associated with FSHD include subclinical sensorineural hearing loss and
retinal telangectasias.
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