Distal nebulin myopathy

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.

Disease data

Classification

Disease

Synonyms

Nebulin-related early-onset distal myopathy

ORPHA code

399103

OMIM code

ICD10 code

G71.0

ICD11 code

*Soruce