/neuronopathy, distal hereditary motor, autosomal recessive 4

neuronopathy, distal hereditary motor, autosomal recessive 4

Rare Disease

MONDO:0012608

Also Known As

DSMA4autosomal recessive distal spinal muscular atrophy type 4autosomal recessive lower motor neuron disease with childhood onsetdSMA4distal spinal muscular atrophy type 4neuronopathy, distal hereditary motor, autosomal recessive 4spinal muscular atrophy, distal, autosomal recessive, type 4spinal muscular atrophy, distal, autosomal recessive, 4

Definition

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.