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Desmin-related myopathy: report of a rare case

E Sridhar1, M C Sharma, C Sarkar

  • 1Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.

Neurology India
|July 13, 2005
PubMed

Insights

This study reports a rare case of desmin-related myopathy (DRM), a protein surplus myopathy, in India. Early diagnosis is crucial, aided by specific microscopic findings in muscle biopsies.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Protein Surplus Myopathies (PSM) involve protein aggregate accumulation due to gene mutations.
  • Desmin-related myopathies (DRM) are a subset of PSM caused by desmin gene mutations, leading to desmin aggregates and disrupted muscle fiber networks.

Observation:

  • A rare case of DRM in a 23-year-old male with a 5-year history of progressive difficulty in climbing stairs and running.
  • Electromyography (EMG) revealed a myopathic pattern.
  • Muscle biopsy showed features of muscular dystrophy, including rimmed vacuoles and sarcoplasmic inclusions immunoreactive to desmin.

Findings:

  • Ultrastructural examination confirmed sarcoplasmic bodies and granulofilamentous inclusions.
  • The findings highlight the diagnostic significance of bluish rimmed vacuoles and specific ultrastructural inclusions in suspected DRM.
  • This case represents the first reported instance of DRM/desminopathy in India.

Implications:

  • Suggests considering DRM/desminopathy in differential diagnoses for myopathies presenting with specific histological features.
  • Emphasizes the importance of integrating light and electron microscopy for accurate diagnosis of rare myopathies.
  • Contributes to the understanding and reporting of rare genetic muscle disorders globally.

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