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Related Experiment Video

Updated: Apr 16, 2026

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases
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Limb Girdle Muscular Dystrophy (LGMD): Case Report.

Shubhangi A Kanitkar1, Meenakshi Kalyan2, Anu N Gaikwad3

  • 1Professor, Department of Medicine, Padmashree Dr. D. Y. Patil Medical College Hospital and Research Centre , Pimpri, Pune, India .

Journal of Clinical and Diagnostic Research : JCDR
|March 5, 2015
PubMed
Summary

This case study details a young male with autosomal recessive limb girdle muscular dystrophy (LGMD), highlighting progressive muscle weakness and characteristic clinical findings. Diagnostic tests confirmed muscular dystrophy, emphasizing the importance of early identification in genetic muscle disorders.

Keywords:
Gower’s signMuscle biopsyProximal muscle weakness

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Area of Science:

  • Neurology
  • Genetics
  • Clinical Medicine

Background:

  • Autosomal recessive limb girdle muscular dystrophy (LGMD) is a group of inherited muscle disorders characterized by progressive muscle weakness and wasting.
  • A positive family history is often indicative of genetic inheritance patterns in LGMD.
  • Early diagnosis and understanding of LGMD subtypes are crucial for management and genetic counseling.

Observation:

  • A young male presented with a gradual onset of proximal muscle weakness in all four limbs starting at age eight.
  • Clinical examination revealed muscle atrophy in the shoulders and thighs, pseudohypertrophy of the calves, hypotonia, Gower's sign, and scapular winging.
  • Neurological assessment indicated reduced muscle power in the shoulders, hips, and knees, with preserved strength in wrists and ankles.

Findings:

  • Electromyography (EMG) demonstrated a myopathic pattern, consistent with muscle damage.
  • Elevated creatinine phosphokinase (CPK) levels were observed, a common biomarker for muscle injury.
  • Muscle biopsy findings were indicative of muscular dystrophy, supporting the diagnosis of LGMD.

Implications:

  • This case underscores the clinical presentation and diagnostic pathway for autosomal recessive LGMD in young males.
  • Understanding the specific subtype of LGMD is essential for prognosis and potential therapeutic strategies.
  • Further research into genetic mutations and therapeutic interventions for LGMD is warranted to improve patient outcomes.