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Facioscapulohumeral muscular dystrophy
Background
Overview
Definition
Facioscapulohumeral muscular dystrophy is an autosomal dominant inherited disorder characterized by asymmetric and progressive weakness of the muscles of the face, scapular, and humeral muscles, followed by weakness of distal lower extremities and pelvic girdle.
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Pathophysiology
Facioscapulohumeral muscular dystrophy is caused by a genetic abnormality with contraction of a part of a repeated sequence in the D4Z4 region on chromosome 4q35 and mutations in gene SMCHD1.
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Disease course
Clinical manifestations of facioscapulohumeral muscular dystrophy include progressive weakness of the facial, shoulder arm muscles, foot drop, asymmetrical abdominal weakness (Beevor's sign), paraspinal muscle weakness, bent-spine, limb-girdle patterns, asymptomatic atrial arrhythmias, hearing loss, retinal vascular changes, and respiratory involvement that leads to patients wheelchair-bound.
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Prognosis and risk of recurrence
Facioscapulohumeral muscular dystrophy is not associated with increased mortality.
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Guidelines
Key sources
The following summarized guidelines for the evaluation and management of facioscapulohumeral muscular dystrophy are prepared by our editorial team based on guidelines from the American College of Chest Physicians (ACCP 2023), the Heart Rhythm Society (HRS 2022), the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM/AAN 2015), and the European Federation of Neurological Societies (EFNS 2011).
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