What is the 229th ENMC international workshop definition of limb-girdle muscular dystrophy (LGMD)?

Updated: Aug 15, 2019
  • Author: Monica Saini, MD, MBBS, MRCP(UK); Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

The 229th ENMC international workshop has proposed that for a condition to be considered LGMD, the following conditions must be fulfilled: [3]

  • Condition must be described in at least two unrelated families

  • Affected individuals must have achieved independent walking

  • Evidence of elevated serum creatine kinase (CK) activity

  • Presence of degenerative changes on muscle imaging over the course of the disease

  • Presence of dystrophic changes on muscle histology; development of end-stage pathology for the most affected muscles, over time


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