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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2e (lgmd 2e): Genetics This is caused by mutations in the SGCB (β sarcoglycan) gene The onset is from childhood to adulthood: the onset age is 1-40 years Clinical features Clinical signs Cardiorespiratory features Creatinine…

Genetics

  • This is caused by mutations in the SGCB (β sarcoglycan) gene
  • The onset is from childhood to adulthood: the onset age is 1-40 years

Clinical features

Clinical signs

Cardiorespiratory features

Creatinine kinase (CK)

Muscle biopsy

Treatment

References

  1. Semplicini C, Vissing J, Dahlqvist JR, et al. Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. Neurology 2015; 84:1772-1781. 
  2. Cagliani R, Comi GP, Tancredi L, et al. Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. Neuromuscul Disord 2001; 11:389-394.
  3. Fanin M, Melacini P, Boito C, Pegoraro E, Angelini C. LGMD2E patients risk developing dilated cardiomyopathy. Neuromuscul Disord 2003; 13:303-309.
  4. Rivas E, Teijeira S, dos Santos MR, et al. Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family. Acta Myol 2004; 23:159-162.
  5. Wong-Kisiel LC, Kuntz NL. Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort. Neuromuscul Disord 2010; 20:122-124.

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