Facioscapulohumeral muscular dystrophy

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By Rabi Tawil MD

Facioscapulohumeral muscular dystrophy is also known as Landouzy-Dejerine muscular dystrophy. -ed

Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly inherited, clinically recognizable and relatively common muscular dystrophy. It does not curtail longevity much, but about 20% of patients use a wheelchair after the age of 50. The differential diagnosis is confined to few other conditions, including some linb-girdle dystrophies, a neurogenic form, a scapuloperoneal myopathy, and rare mitochondrial myopathies. The molecular genetic mechanism of FSHD has, until recently, remained enigmatic. Dr. Tawil of the University of Rochester explains the recent breakthroughs in our understanding of the molecular mechanism underlying FSHD. To date, medical treatment is not effective, but many affected people continue to work.

Key Points

  • Facioscapulohumeral muscular dystrophy (FSHD) can be recognized by inspection and clinical examination; the diagnosis can be confirmed by genetic testing.
  • Differential diagnosis is limited to few other conditions.
  • Inheritance is autosomal dominant in most with a high incidence of sporadic cases due to de novo mutations.
  • Although genetically distinct, both FSHD1 and FSHD2 result from expression of a normally silenced gene, DUX4.
  • Drug treatment is not available, but longevity is almost normal.
  • Scapular fixation cannot be subject to a blinded, controlled therapeutic trial, but it is gaining in use.

In This Article

Historical note and nomenclature
Clinical manifestations
Clinical vignette
Pathogenesis and pathophysiology
Differential diagnosis
Diagnostic workup
Prognosis and complications
References cited