Which clinical history findings are characteristic of autosomal-recessive limb-girdle muscular dystrophy 2Q (LGMD2Q)?

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

LGMD2Q (LGMDR17 Plectin 1f; 8q24)

This disease is allelic with congenital muscular dystrophy with familial junctional epidermolysis bullosa (see Congenital Muscular Dystrophy).

Rare families have been reported with LGMD phenotype without skin manifestations. [37] Onset is in early childhood, with slow progression of proximal more that distal weakness.

Rare ocular involvement and hypertrophic gastrocnemius has been described.


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