Orphanet: Distal nebulin myopathy

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Distal nebulin myopathy

Disease definition

Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.


Classification level: Disorder
  • Synonym(s):
    • Nebulin-related early-onset distal myopathy
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Adolescent, Childhood, Adult
  • ICD-10: G71.0
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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