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autosomal recessive distal hereditary motor neuronopathy 5
Summary
- Synonym
-
- DSMA5
- autosomal recessive distal spinal muscular atrophy type 5
- distal spinal muscular atrophy type 5
- young adult-onset dHMN
- young adult-onset distal hereditary motor neuropathy
- Definition
- An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35.
- Super Class
- autosomal recessive distal hereditary motor neuronopathy
External Links
- Disease Ontology
- DOID:0111214
- Mondo Disease Ontology
- ORDO
- OMIM
