Disease association ontology term - MONDO:0010338 - X-linked distal spinal muscular atrophy type 3
Term summary
- ID
- MONDO:0010338
- Name
- X-linked distal spinal muscular atrophy type 3
- Ontology or CV name
- Disease association
- Definition
- X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.
