Disease & disorder

Charcot-Marie-Tooth disease X-linked recessive 2

MONDO:0010550

X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.

Clinical trials0
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Synonyms8

Research intelligence

Directly mapped studies only · unique clinical trials

Current registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.

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Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.

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Background context

Charcot-Marie-Tooth disease X-linked recessive 2

Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.

Drugs being studied

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.