Clinical and Genetic Studies of Limb Girdle Muscular Dystrophy: Reports of Two Cases

Authors

  • Rumana Islam Resident, MD (Pediatric Neurology and Development), Department of Pediatric Neurology, Institute of Peidatric Neurodisorder and Autism (IPNA), Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Kanij Fatema Associate Professor, Department of Pediatric Neurology, IPNA, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Anjir Anwar FCPS trainee (Pediatric Neurology and Development), Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Md Mizanur Rahman Professor, Department of Pediatric Neurology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Shaheen Akhter Professor, Department of Pediatric Neurology, IPNA, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh

DOI:

https://doi.org/10.3329/jemc.v10i3.59362

Keywords:

Limb Girdle Muscular Dystrophy; Genetic; Clinical

Abstract

Limb girdle muscular dystrophy (LGMD) presents with weakness and wasting of muscles, initially appear at proximal group of pelvic and shoulder girdles and inherited by an autosomal recessive disorder mainly and rarely autosomal dominant trait. We report two young girls of limb girdle muscular dystrophy (LGMD), who presented with gradual onset of weakness in proximal muscle of all four limbs. There was positive family history in one girl. Neurological examination revealed pseudo hypertrophy of both calves, hypotonia in all four limbs, muscle power diminished, more on proximally. All deep tendon reflexes were diminished with planters bilateral flexors. Gower sign was positive and winging of scapula was also present. Electromyography (EMG) showed myopathic pattern. Both had elevated creatinine phosphokinase levels and finally genetic study confirmed the diagnosis.

J Enam Med Col 2020; 10(3): 190-194

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Published

2022-05-10

How to Cite

Islam, R., Fatema, K. ., Anwar, A., Rahman, M. M., & Akhter, S. . (2022). Clinical and Genetic Studies of Limb Girdle Muscular Dystrophy: Reports of Two Cases. Journal of Enam Medical College, 10(3), 190–194. https://doi.org/10.3329/jemc.v10i3.59362

Issue

Section

Case Reports