X-linked and FSH dystrophies in one family

B R Lecky1, J M MacKenzie, A P Read

  • 1Mersey Regional Department of Neurology, Walton Hospital, Liverpool, U.K.

Insights

Facioscapulohumeral muscular dystrophy (FSHD) and Duchenne muscular dystrophy (DMD) presented in a family. A severe primary muscle disease in a child may have resulted from dual expression of both FSHD and DMD.

Area of Science:

  • Genetics and Molecular Biology
  • Neurology
  • Pediatrics

Background:

  • Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder affecting muscles of the face, shoulders, and upper arms.
  • Duchenne muscular dystrophy (DMD) is a severe genetic disorder causing progressive muscle degeneration and weakness.

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