Neuronopathy, distal hereditary motor, autosomal recessive 5

MONDO:0013947

Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.

Also known as: DSMA5, Young adult-onset dHMN, autosomal recessive distal spinal muscular atrophy type 5, dSMA5, spinal muscular atrophy, distal, autosomal recessive, type 5, young adult-onset distal hereditary motor neuropathy, spinal muscular atrophy, distal, autosomal recessive, 5

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

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Broader categories

Disease (717) Nervous system disorder (243) Hereditary disease (188) Neurodegenerative disease (182) Peripheral nervous system disorder (119) Central nervous system disorder (115) Neuromuscular disease (110) Spinal muscular atrophy (105) Peripheral neuropathy (92) Motor neuron disorder (67)

Trials to join now! 10 Not yet finished but already full! 3 Completed 1 Terminated 1

Neuronopathy, distal hereditary motor, autosomal recessive 5

Broader categories

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