Facioscapulohumeral muscular dystrophy (FSHD): genetic classification

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Facioscapulohumeral muscular dystrophy (FSHD): genetic classification. This results from D4Z4 gene mutations on chromosome 4q35.

FSHD type 1A (FSHD1A)

  • This results from D4Z4 gene mutations on chromosome 4q35
  • The transmission is autosomal dominant
  • There is a reduction in number of D4Z4 repeats
  • FSHD develops only if the variant distal to the D4Z4 is 4qA and not 4qB

FSHD type 1B (FSHD1B)

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FSHD type 2

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Acronym

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References

  1. Bertorini TE. Neuromuscular Case Studies. Butterworth Heinemann Philadelphia 2008 p500.
  2. Sacconi S, Salviati L, Bourget I, et al. Diagnostic challenges in facioscapulohumeral muscular dystrophy. Neurology 2006; 67:1464-1466.
  3. Hamanaka K, Šikrová D, Mitsuhashi S, et al. Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. Neurology 2020; 94:e2441-e2447.
  4. de Greef JC, Lemmers RJLF, Camano P, et al. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology 2010; 75:1548-1554.
  5. Lemmers RJ, van den Boogaard ML, van der Vliet PJ, et al. Hemizygosity for SMCHD1 in facioscapulohumeral muscular dystrophy type 2: consequences for 18p deletion syndrome. Hum Mutat 2015; 36:679-683.
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