Limb girdle muscular dystrophy type 1D (LGMD 1D)

Evidence-based neurology checklist on limb girdle muscular dystrophy type 1d (lgmd 1d): Genetics This is caused by mutations in the DNAJB6 gene on chromosome 7q The onset is in the second or third decades Clinical features Creatinine kinase (CK) Muscle biopsy: features Investigational treatments

Genetics

  • This is caused by mutations in the DNAJB6 gene on chromosome 7q
  • The onset is in the second or third decades

Clinical features

Creatinine kinase (CK)

Muscle biopsy: features

Investigational treatments

References

  1. Mitsuhashi S, Kang PB. Update on the genetics of limb girdle muscular dystrophy. Semin Pediatr Neurol 2012; 19:211-218.
  2. Greenberg SA, Salajegheh M, Judge DP, et al. Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol 2012; 71:141-145.
  3. Zima J, Eaton A, Pál E, et al. Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type. Eur J Med Genet 2019; pii: S1769-7212(18)30739-0 (Epub ahead of print).
  4. Narayanaswami P, Weiss M, Selcen D, et al; Guideline Development Subcommittee of the American Academy of Neurology. Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology 2014; 83:1453-1463.
  5. Findlay AR, Bengoechea R, Pittman SK, Chou TF, True HL, Weihl CC. Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D. Neurol Genet 2019; 5:e318.
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