Which clinical history findings are characteristic of autosomal-dominant limb-girdle muscular dystrophy 1C (LGMD1C)

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

LGMD1C (caveolinopathy; excluded from the new classification)

Predominant symptoms may be rippling-muscle disease, which presents as mechanical or activity-induced, electrically silent muscle contraction that moves laterally in wavelike fashion across the muscle. Myoedema, or mounding of the muscle after percussion, may be observed. Patients may also have proximal weakness, muscle hypertrophy, or myalgias.

Onset is usually in the first or second decade, but it may manifest into early adulthood. Presentation is usually with proximal weakness but can also be with distal weakness. Progression is slow to moderate and may be variable within families.

Rhabdomyolysis has been reported. [45]

Calf hypertrophy affects some patients.

Adults usually remain ambulant.


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