Which clinical history findings are characteristic of autosomal-dominant limb-girdle muscular dystrophy 1A (LGMD1A)

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

LGMD1A (myotilinopathy, also Myofibrillar myopathies; excluded from the new classification)

Onset varies from young adulthood to the mid-70s.

Presentation is often with distal weakness causing foot drop, but can also be distal and proximal or just proximal, but progresses to clinically significant proximal and distal weakness in all patients.

The progression is slow, with late loss of ambulation or, rarely, respiratory insufficiency.

Dysarthria and facial weakness may be present.

Cardiomyopathy or arrhythmia is noted in 50%.

Neuropathy noted in more than 50% may account for distal weakness.


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