Which clinical history findings are characteristic of autosomal-recessive limb-girdle muscular dystrophy 2H (LGMD2H)?

Updated: Aug 15, 2019
  • Author: Monica Saini, MD, MBBS, MRCP(UK); Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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LGMD2H (LGMDR8 TRIM32; 9q33)

LGMD2H has been observed mostly in the Hutterite people of Manitoba. A few non-Hutterites also have been shown to have LGMD2H and have a more variable phenotype. [19]

This disease is allelic with sarcotubular myopathy (see Congenital Myopathies).

Wide phenotype heterogeneity is reported.

Onset is usually in the second to third decades of life, with limb-girdle weakness and a waddling gait. The proximal arm muscles and the distal leg muscles are involved late.

Back pain and fatigue are common.

Progression is slow, with continued ambulation until around 50 years of age or later.

Other features can include neck flexor weakness, facial weakness, scapular winging, respiratory insufficiency, ankle contractures, and cramps. 

Asymptomatic affected individuals with hyperCKemia have been reported. 

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