Facioscapulohumeral muscular dystrophy

Article section 1 of 16.  Next

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 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.
  • FSHD results 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.