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

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

Limb girdle muscular dystrophy type 1D (LGMD 1D). This is caused by mutations in the DNAJB6 gene on chromosome 7q. Fully referenced neurology checklist.

Genetics

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

Clinical features

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Creatinine kinase (CK)

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Muscle biopsy: features

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Investigational treatments

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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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