Limb Girdle Muscular Dystrophies

Ignacio M. Carrillo-Nunez, Anneke J. van der Kooi, Marianne de Visser

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Original languageEnglish
Title of host publicationInternational Neurology
Subtitle of host publicationA Clinical Approach
Number of pages4
ISBN (Print)9781405157384
Publication statusPublished - 18 May 2010


  • Autosomal recessive (Duchenne-like) LGMD - a rare disorder
  • Autosomal recessive LGMD (type 2) - more frequent than dominant forms (LGMD1)
  • Autosomal-dominant LGMD as LGMD1 and autosomal-recessive LGMD as LGMD2
  • Classification of limb girdle muscular dystrophy
  • LGMD, heterogeneous group of disorders - characterized by progressive, usually rather symmetric, weakness and atrophy of proximal limb muscles
  • Limb girdle muscular dystrophy (LGMD)
  • No proven treatment to cure or significantly delay - disease progression for any LGMD
  • Serum creatine kinase (SCK) activity - markedly elevated in LGMD2 forms

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