neuronopathy, distal hereditary motor, autosomal recessive 4
A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.
MONDO:0001516
spinal muscular atrophy
is_a
MONDO:0015363
neuronopathy, distal hereditary motor, autosomal recessive
is_a
DSMA4
exact
autosomal recessive distal spinal muscular atrophy type 4
exact
autosomal recessive lower motor neuron disease with childhood onset
exact
dSMA4
exact
distal spinal muscular atrophy type 4
exact
neuronopathy, distal hereditary motor, autosomal recessive 4
exact
spinal muscular atrophy, distal, autosomal recessive, 4
related
spinal muscular atrophy, distal, autosomal recessive, type 4
exact