autosomal dominant distal hereditary motor neuronopathy

Summary
Synonym
  • autosomal dominant dHMN
  • autosomal dominant distal hereditary motor neuropathy
  • autosomal dominant distal spinal muscular atrophy
Definition
A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance.
Super Class
autosomal dominant disease spinal muscular atrophy
Disease Ontology
DOID:0111198
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4677 NARS1 asparaginyl-tRNA synthetase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024