Which clinical history findings are characteristic of autosomal-dominant limb-girdle muscular dystrophy D5 (LGMDD5)

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

LGMDD5 (Bethlem 1; COL6A1: 21q22; COL6A2: 21q22; COL6A3: 2q37)

Allelic with Bethlem myopathy, Ullrich Scleroatonic muscular dystrophy

Variable age of onset. Early onset may present with fetal hypotonia. Onset in seventh decade has been reported.

Spontaneous improvement may occur after birth and around puberty. Many become wheelchair bound by the seventh decade.

Distal or proximal contractures. 

Muscle pain and cramps may be noted.

Respiratory and cardiac involvement may occur in minority

muscle.

Hypertrophy is not reported.


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