Which clinical history findings are characteristic of autosomal-recessive limb-girdle muscular dystrophy R23 (LGMDR23)?

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

LGMDR23 (LAMA2; 6q22)

Variable onset, early onset tends to be severe, late onset shows slow progression.

Neurological manifestations (epilepsy, leukoencephalopathy, globus pallidi signal changes, neuropathy).

Associated dilated cardiomyopathy.


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