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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2a (lgmd 2a): Genetics This is caused by mutations in the Calpain 3 (CAPN 3) gene The onset is in the early teen years: the age range is 8-15 years Clinical features Creatinine kinase (CK) Magnetic resonance imaging (MRI)…

Genetics

  • This is caused by mutations in the Calpain 3 (CAPN 3) gene
  • The onset is in the early teen years: the age range is 8-15 years

Clinical features

Creatinine kinase (CK)

Magnetic resonance imaging (MRI) muscle: affected sites

Muscle biopsy: features

References

  1. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1-12. 
  2. Guglieri M, Bushby K. How to go about diagnosing and managing the limb-girdle muscular dystrophies. Neurol India 2008; 56:271-280.
  3. Norwood F, de Visser M, Eymard B, et al. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies. Eur J Neurol 2007; 14:1305-1312.
  4. Wicklund MP, Hilton-Jones D. The limb-girdle muscular dystrophies. Neurology 2003; 60:1230-1231.
  5. 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.
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