facioscapulohumeral dystrophy
Quick Summary
Facioscapulohumeral dystrophy (FSHD) is a genetic disorder characterized by progressive weakness and wasting of muscles, primarily affecting the face, shoulder girdle, and arms. This condition typically manifests in teenagers, though other limb-girdle dystrophies can appear later in life.12
FSHD is inherited in an autosomal dominant pattern, meaning an affected individual has a 50 percent chance of passing the gene to their children. While FSHD progresses more slowly than some other muscular dystrophies, most individuals with this form have a normal life span. Leg weakness can lead to "foot drop" and a waddling gait. Diagnosis often involves blood tests for creatine kinase levels, muscle biopsies, and electromyography. Currently, there is no specific cure, but treatments focus on physical therapy and managing symptoms.21
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- muscular dystrophyLimb-girdle and facioscapulohumeral dystrophies
Facioscapulohumeral dystrophy (dystrophy related to the face, the shoulder blade, and the upper arm) is caused by a mutation on chromosome 4. It typically emerges in adolescence and affects males and females. The first symptom may be difficulty in raising the arms. Later symptoms may…
Read MoreFacioscapulohumeral dystrophy (dystrophy related to the face, the shoulder blade, and the upper arm) is caused by a mutation on chromosome 4. It typically emerges in adolescence and affects males and females. The first symptom may be difficulty in raising the arms. Later symptoms may…
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nervous system diseaseGenetic dystrophiesFacioscapulohumeral dystrophy causes weakness and wasting of predominantly the face, shoulder girdle, and arms in teenagers. Other limb-girdle dystrophies also show slower progression and may not declare themselves until adult life. Oculopharyngeal dystrophies first strike the eye muscles, causing drooping of the eyelids and weakness…
Read MoreFacioscapulohumeral dystrophy causes weakness and wasting of predominantly the face, shoulder girdle, and arms in teenagers. Other limb-girdle dystrophies also show slower progression and may not declare themselves until adult life. Oculopharyngeal dystrophies first strike the eye muscles, causing drooping of the eyelids and weakness…
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