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.

Also known as: DSMA4, autosomal recessive distal spinal muscular atrophy type 4, autosomal recessive lower motor neuron disease with childhood onset, dSMA4, distal spinal muscular atrophy type 4, neuronopathy, distal hereditary motor, autosomal recessive 4, spinal muscular atrophy, distal, autosomal recessive, type 4, spinal muscular atrophy, distal, autosomal recessive, 4

15 clinical trials for this condition and its sub-types.