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 s...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2015-01-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/5486/10107_CE(Ra)_F(Sh)_PF1(NJAK)_PFA(AK)_PF2(PAK)_PF2(PAG).pdf |
| 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. |
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| ISSN: | 2249-782X 0973-709X |