limb-girdle muscular dystrophy type 2D (LGMD2D)

Epidemiology: - resembles Duchenne muscular dystrophy or Becker muscular dystrophy, but affects females as well as males Pathology: - degenerative myopathy - muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan - adhalin deficiency Genetics: - autosomal recessive - associates with defects in SGCA (adhalin) Clinical manifestations: - progressive muscle wasting from early childhood with loss of independent ambulation by teenage years - phenotype is less severe than LGMD2C (limb-girdle muscular dystrophy type 2C)

Database Correlations

OMIM correlations MORBIDMAP 600119

References

- Lim LE et al Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 11:257-265 1995 PMID: 7581448