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

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

Limb girdle muscular dystrophy type 2A (LGMD 2A). This is caused by mutations in the Calpain 3 (CAPN 3) gene. Fully referenced neurology checklist.

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

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Creatinine kinase (CK)

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Magnetic resonance imaging (MRI) muscle: affected sites

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Muscle biopsy: features

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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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