Which clinical history findings are characteristic of autosomal-recessive limb-girdle muscular dystrophy 2K (LGMD2K)?

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

LGMD2K (MDDGC1; LGMDR11 POMT1; 9q34)

The disease is allelic with Walker-Warburg syndrome and mutations in POMT1 cause approximately 20% of Walker-Warburg syndrome cases. (See Congenital Muscular Dystrophy.)

The age of onset is 1–6 years; later onset may be noted.

LGMD2K is characterized by severe proximal muscle weakness with slow progression. Contractures and scoliosis may be present.

Clinical phenotype is inversely correlated with POMT1 activity.

Results of ophthalmologic and funduscopic examinations, including electroretinography, are normal.

Facial dysmorphic features and mental retardation may occur, though brain MRIs are normal in LGMD2K.


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