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facioscapulohumeral dystrophy (FSHD)

Genetics: 1) autosomal dominant 2) chromsomal aberration: chromosome 4, DUX4 gene - 70-90% of individuals have inherited a deletion - 10-30% of affected individuals delelop a de novo deletion 3) other implicated genes FRG2, DUX4L9 Clinical manifestations: 1) age of onset: 10-20 years 2) asymmetric involvement [1] 3) initial weakness: shoulders, proximal upper limbs 4) early facial involvement, weakness of facial muscles 5) slow rate of progression - 20% of affected individuals eventually require a wheelchair Laboratory: - serum creatine kinase is normal Special laboratory: - electrocardiogram: normal Management: 1) symptomatic 2) ankle-foot orthoses are useful for patients with foot drop

Related

double homeobox protein 4 (DUX4, double homeobox protein 10, DUX10) FSHD gene mutation

General

muscular dystrophy

Database Correlations

OMIM 158900

References

  1. Medical Knowledge Self Assessment Program (MKSAP) 11, 14, 15, American College of Physicians, Philadelphia 1998, 2006, 2009
  2. UniProt :accession 158900