Orphanet: Distal nebulin myopathy
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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.

ORPHA:399103

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: -
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.