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Charcot-Marie-Tooth disease X-linked recessive 5

MONDO:0010699

X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.

Also known as: CMT5X, CMTX5, Charcot-Marie-Tooth disease X-linked recessive type 5, Charcot-Marie-Tooth disease, X-linked recessive, 5, Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive, Charcot-Marie-Tooth disease, X-linked recessive, type 5, Charcot-Marie-Tooth neuropathy X type 5, Charcot-Marie-Tooth neuropathy, X-linked recessive, 5

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

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Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Hereditary disease (172) Peripheral nervous system disorder (107) Neuromuscular disease (98) Peripheral neuropathy (90) Charcot-Marie-Tooth disease (43) Inborn errors of metabolism (42) X-linked disease (16)
Trials to join now! 21 Not yet recruiting 4 Not yet finished but already full! 3 Completed 6
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