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Distal hereditary motor neuropathy type 2

Disease definition

A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.

ORPHA:139525

Classification level: Disorder
  • Synonym(s):
    • Distal spinal muscular atrophy type 2
    • dHMN2
    • dSMA2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult
  • ICD-10: G12.2
  • ICD-11: 8B61.4
  • OMIM: 158590  608634  613376  615575
  • UMLS: C1854023
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2022) Français (2022) Nederlands (2022) Polski ()

Detailed information

General public

Guidelines

Disability

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.