Which clinical history findings are characteristic of autosomal-recessive limb-girdle muscular dystrophy 2G (LGMD2G)?

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

LGMD2G (LGMDR7 Telethonin; 17q12)

LGMD2D is a rare cause of LGMD, with significant phenotypic variability between and within families.

The typical age of onset is the first to second decade of life. Presentation in infancy with a congenital muscular dystrophy phenotype has been described. [17]

Weakness is predominantly proximal, but one half of patients may present with foot drop and anterior compartment atrophy (leg), and nearly all eventually develop distal leg weakness. Gluteal and thigh atrophy may be prominent. [18]

Calf hypertrophy occurs in about 50%, but some patients have calf atrophy that may resemble Miyoshi myopathy (LGMD2B).

Wheelchair confinement occurs in the third to fourth decade.

Cardiomyopathy occurs in about 50%. Presentation with an isolated, dilated cardiomyopathy has been described.


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