Nemaline Myopathies

A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)

Also Known As:

Nemaline Myopathy; Rod Myopathy; Myopathies, Nemaline; Adult Onset Nemaline Myopathy; Autosomal Dominant Nemaline Myopathy; Autosomal Recessive Nemaline Myopathy; Childhood Onset Nemaline Myopathy; Late Onset Nemaline Myopathy; Nemaline Body Disease; Nemaline Myopathy, Adult Onset; Nemaline Myopathy, Autosomal Dominant; Nemaline Myopathy, Autosomal Recessive; Nemaline Myopathy, Childhood Onset; Nemaline Myopathy, Late Onset; Nemaline Rod Disease; Rod Body Disease; Rod-Body Myopathy; Myopathies, Rod; Myopathies, Rod-Body; Myopathy, Rod Body; Rod Body Myopathy; Rod Myopathies; Rod-Body Myopathies; Myopathy, Nemaline; Myopathy, Rod; Myopathy, Rod-Body

Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Congenital Structural Myopathies: 407
    - Nemaline Myopathies: 331
Nervous System Diseases: 14178
- Neuromuscular Diseases: 2005
  - Muscular Diseases: 10128
    - Congenital Structural Myopathies: 407
      - Nemaline Myopathies: 331

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