Overview

• Nemaline Myopathy (NM): A congenital myopathy characterized by rod-like inclusions (nemaline bodies) in skeletal muscle fibers.
• Inheritance:
  • Autosomal dominant (AD), autosomal recessive (AR), or sporadic (new dominant mutations).

  Clinical Forms

  1. Typical Congenital NM

     • Onset: Birth or first year of life.
     • Features:
       • Hypotonia, weakness, feeding difficulties.
       • Delayed motor milestones, waddling gait, or speech abnormalities.
       • Facial weakness is common.
       • Weakness:
         • Both distal and proximal muscles (genetic subtype clue).
         • Respiratory muscle involvement (often subclinical hypoventilation).
       • Cardiac involvement: Rare.
     • Prognosis:
       • Muscle weakness often static or slowly progressive.
       • Most patients lead active lives.

  2. Severe Congenital NM

     • Onset: Birth.
     • Features:
       • Severe hypotonia, fetal akinesia, limited postnatal movement.
       • Feeding difficulties (sucking and swallowing issues).
       • Respiratory insufficiency and recurrent pneumonia.
     • Prognosis:
       • High mortality in first weeks/months due to respiratory failure.
       • Rare survivors may achieve independent walking.

  Diagnostic Features

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  Information

  Published:04 January 2025 Last Updated:04 January 2025