A rare neuromuscular disease with characteristics of slowly progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3701704014
Distal hereditary motor neuropathy type 1
Active
Synonym
false
false
3701705010
Autosomal dominant distal juvenile spinal muscular atrophy type 1