Which clinical history findings are characteristic of autosomal-recessive limb-girdle muscular dystrophy 2T (LGMD2T)?

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

LGMD2T (LGMDR19 GMPPB; 3p21)

Rare patients have been reported with a wide range of symptom onset (and severity) from birth to the mid 30s. [40, 41]

Proximal limb girdle weakness with slow progression is seen in all subjects. A preferential involvement of paraspinal and hamstring muscles may be noted.

Additional features can include cramps, calf hypertrophy, rhabdomyolysis, mild cognitive impairment, epilepsy, and cardiac conduction defects.

A more severe phenotype with congenital muscular dystrophy and associated brain and eye abnormalities has been described as in other muscular dystrophies with mutations in genes responsible for glycosylating α-dystroglycan. (see Congenital Muscular Dystrophy).


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