Which clinical history findings are characteristic of autosomal-recessive limb-girdle muscular dystrophy 2N (LGMD2N)?

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

LGMD2N (LGMDR14 POMT2; 14q24)

The disease is allelic with Walker-Warburg syndrome (see Congenital Muscular Dystrophy).

16 cases have been described with a LGMD phenotype. [34, 35]

Presenting symptoms include delayed motor milestones, difficulties in walking, exercise related muscle pain. Clinically, hip and knee flexors and extensors are maximally affected.

Cognitive impairment and learning difficulties are common. Structural brain abnormalities may be evident on MRI, and include ventricular enlargement, periventricular hyperintensities, and frontal.

On MRI, most affected muscles include hamstrings followed by paraspinal and gluteal muscles.

Calf hypertrophy and scapular winging have been noted.

Muscle biopsy may show inflammatory changes.


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