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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2d (lgmd 2d): Genetics This is caused by mutations in the SGCA (α sarcoglycan) gene The onset is in childhood to adulthood It is the mildest sarcoglyconopathy Clinical features Investigations Treatment Synonym

Genetics

  • This is caused by mutations in the SGCA (α sarcoglycan) gene
  • The onset is in childhood to adulthood
  • It is the mildest sarcoglyconopathy

Clinical features

Investigations

Treatment

Synonym

References

  1. Tétreault M, Srour M, Allyson J, et al. Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster. Can J Neurol Sci 2011; 38:747-752.
  2. Wicklund MP, Hilton-Jones D. The limb-girdle muscular dystrophies. Neurology 2003; 60:1230-1231.
  3. Castro-Gago M, Novo-Rodríguez MI, Pintos-Martínez E, Gallano P, Eirís-Puñal J. Early onset adhalinopathy (LGMD2D) mimicking congenital muscular dystrophy. Rev Neurol 2001; 32:631-635. 
  4. Eymard B, Romero NB, Leturcq F, et al. Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurology 1997; 48:1227-1234.
  5. Fayssoil A, Ogna A, Chaffaut C, et al. Natural history of cardiac and respiratory involvement, prognosis and predictive factors for long-term survival in adult patients with limb girdle muscular dystrophies type 2C and 2D. PLoS One 2016; 11:e0153095. 
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