Charcot-Marie-Tooth disease type 4D
MONDO:0011085Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.
Also known as: CMT4D, Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1, Charcot-Marie-Tooth disease type 4D, HMSN, Lom type, HMSN-Lom, HMSN4D, HMSNL, NDRG1 Charcot-Marie-Tooth disease type 4
10 clinical trials for this condition and its sub-types, 2 tagged with Charcot-Marie-Tooth disease type 4D itself.
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Global registry aims to map the full course of Charcot-Marie-Tooth disease
Knowledge-focused Recruiting nowResearchers are building a global registry to collect patient-reported surveys, genetic test results, and medical records from people with Charcot-Marie-Tooth disease and related inherited neuropathies. The study is open to children and adults with a confirmed or suspected diagno…
Sponsor: Hereditary Neuropathy Foundation • Aim: Knowledge-focused
Last updated Sep 19, 2026 00:00 UTC
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New study aims to unravel nerve mysteries in rare diseases
Knowledge-focused Recruiting nowThis study looks at how nerves work in people with Charcot-Marie-Tooth disease and other nerve disorders like CIDP. Researchers will use special electrical tests and ultrasound to measure nerve and muscle changes. The goal is to better understand these conditions, not to test a n…
Sponsor: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC