Limb Girdle Muscular Dystrophy (LGMD): Case Report

We report a young male of autosomal recessive limb girdle muscular dystrophy (LGMD) with positive family history presented with gradual onset proximal muscle weakness in all four limbs since eight years and thinning of shoulders, arms and thighs. Neurological examination revealed atrophy of both sho...

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Bibliographic Details
Published in:Journal of clinical and diagnostic research 2015-01, Vol.9 (1), p.OD08-OD09
Main Authors: Kanitkar, Shubhangi A, Kalyan, Meenakshi, Gaikwad, Anu N, Makadia, Ankit, Shah, Harshad
Format: Article
Language:English
Subjects:
gower’s sign
Internal Medicine Section
muscle biopsy
proximal muscle weakness
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Summary:We report a young male of autosomal recessive limb girdle muscular dystrophy (LGMD) with positive family history presented with gradual onset proximal muscle weakness in all four limbs since eight years and thinning of shoulders, arms and thighs. Neurological examination revealed atrophy of both shoulders with wasting of both deltoids thinning of thighs and pseudo hypertrophy of both calves, hypotonia in all four limbs. Gower's sign was positive. Winging of scapula was present. Power was 3/5 at both shoulders, 4/5 at both elbows, 5/5 at both wrists, 3/5 at both hip joints, 3/5 at both knees, 5/5 at both ankles. All deep tendon reflexes and superficial reflexes were present with plantars bilateral flexors. Electromyography (EMG) showed myopathic pattern. He had elevated creatinine phosphokinase levels and muscle biopsy findings consistent with muscular dystrophy.
ISSN:2249-782X
0973-709X
DOI:10.7860/JCDR/2015/10107.5486