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Autosomal recessive distal spinal muscular atrophy 2

MONDO:0011585

Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset).

Also known as: DSMA2, autosomal recessive distal spinal muscular atrophy type 2, dHMNJ, spinal muscular atrophy, distal, autosomal recessive, type 2, HMNJ, MNDJ, distal hereditary motor neuropathy, Jerash type, hereditary motor neuropathy, Jerash type

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

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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
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