Disease & disorder

Charcot-Marie-Tooth disease X-linked dominant 6

MONDO:0010479

X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles).

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Synonyms7

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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Background context

Charcot-Marie-Tooth disease X-linked dominant 6

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.