Limb girdle muscular dystrophy type 2B (LGMD 2B)

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2b (lgmd 2b): Genetics This is caused by mutations in the DYSF (dysferlin) gene on chromosome 2p The onset is usually abrupt onset after a normal childhood: between 17-25 years It may present as late as the seventh decade:…

Genetics

  • This is caused by mutations in the DYSF (dysferlin) gene on chromosome 2p
  • The onset is usually abrupt onset after a normal childhood: between 17-25 years
  • It may present as late as the seventh decade: with late-onset rigid spine

Distal weakness

Other dysferlin phenotypes

Differential diagnosis

Investigations

References

  1. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1-12. 
  2. Bushby K. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol 2009; 9:314-323. 
  3. Wicklund MP, Hilton-Jones D. The limb-girdle muscular dystrophies. Neurology 2003; 60:1230-1231.
  4. Norwood F, de Visser M, Eymard B, Lochmuller H, Bushby K. Limb girdle muscular dystrophies. In: Gilhus NE, Barnes MP, Brainin M (eds). European Handbook of Neurological Management 2011, 2nd edition, Blackwell Vol 2 pp363-371.
  5. Guglieri M, Bushby K. How to go about diagnosing and managing the limb-girdle muscular dystrophies. Neurol India 2008; 56:271-280.
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