facioscapulohumeral dystrophy (FSHD)

Genetics

• autosomal dominant
• chromsomal aberration: chromosome 4, DUX4 gene
  • 70-90% of individuals have inherited a deletion
  • 10-30% of affected individuals delelop a de novo deletion
• other implicated genes FRG2, DUX4L9

Clinical manifestations

• age of onset: 10-20 years
• asymmetric involvement
• initial weakness: shoulders, proximal upper limbs
• early facial involvement, weakness of facial muscles
• slow rate of progression
  • 20% of affected individuals eventually require a wheelchair

Laboratory

• serum creatine kinase is normal

Diagnostic procedures

• electrocardiogram: normal

Management

• symptomatic
• ankle-foot orthoses are useful for patients with foot drop

More general terms

• muscular dystrophy

Additional terms

• double homeobox protein 4 (DUX4, double homeobox protein 10, DUX10)

Database

• OMIM: https://mirror.omim.org/entry/158900