neuronopathy, distal hereditary motor, autosomal recessive 3
A rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.
MONDO:0001516
spinal muscular atrophy
is_a
MONDO:0015363
neuronopathy, distal hereditary motor, autosomal recessive
is_a
autosomal recessive distal spinal muscular atrophy type 3
exact
dHMN3 and dHMN4
exact
dSMA3
exact
distal hereditary motor neuropathy type 3 and type 4
exact
distal spinal muscular atrophy type 3
exact
spinal muscular atrophy, chronic distal, autosomal recessive
exact
spinal muscular atrophy, distal, autosomal recessive, 3
related