Lecture Notes

Introduction

• Congenital Myopathies: Group of inherited muscle disorders presenting with:
  • Hypotonia and weakness from birth.
  • Characteristic histological and/or electron microscopic changes in muscle tissue.

  Clinical Features

  1. Common Features

     • Generalized hypotonia: "Floppy infant syndrome."
     • Weakness:
       • Prominent facial weakness ± ptosis.
       • Hypotonic ‘frog-leg’ posture.
       • Respiratory muscle involvement: May require ventilatory support.
       • Bulbar muscle weakness: Feeding and speech difficulties.
     • Extraocular muscle involvement: May present later.
     • Hyporeflexia: Depressed or absent reflexes.
     • Intact sensation and normal intelligence.
     • CK levels: Normal or mildly elevated.
     • EMG: Normal or shows myopathic pattern.

  2. Differentiation from Other Disorders

     • No histopathological evidence of muscular dystrophy.
     • Differential diagnosis includes:
       • Prader-Willi syndrome.
       • Neurometabolic disorders.
       • Non-neuromuscular causes of neonatal hypotonia.

  Diagnostic Tools

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