Charcot-Marie-Tooth disease type 4D
Findings
No curated finding names Charcot-Marie-Tooth disease type 4D yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Charcot-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.
Definition from the Mondo Disease Ontology (MONDO:0011085), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
33 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AreflexiaHPOHP:0001284
- 2 of 2 reported patients
- Decreased nerve conduction velocityHPOHP:0000762
- 2 of 2 reported patients
- Distal muscle weaknessHPOHP:0002460
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Distal sensory impairmentHPOHP:0002936
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Impaired distal proprioceptionHPOHP:0006858
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NDRG1HGNC:7679
- Definitive · Illumina · Autosomal recessive · 2019
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
9 names
Resolves to: Charcot-Marie-Tooth disease type 4D
- Also called
- Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1CMT4Dhereditary motor ABD sensory neuropathy Lom typehereditary motor and sensory neuropathy, Lom typeHMSN-LomHMSN, Lom typeHMSN4DHMSNLNDRG1 Charcot-Marie-Tooth disease type 4