Cure My Disease

Don't miss your cure!

 Log in / Sign up

Neuronopathy, distal hereditary motor, autosomal recessive 4

MONDO:0012608

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

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

Follow this condition — get notified about new trials

Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neurodegenerative disease (155) Peripheral nervous system disorder (107) Neuromuscular disease (98) Central nervous system disorder (97) Spinal muscular atrophy (93) Peripheral neuropathy (90) Motor neuron disorder (59)
Trials to join now! 18 Not yet recruiting 2 Not yet finished but already full! 3 Completed 6
Sort by