Charcot-Marie-Tooth disease type 4F
Findings
No curated finding names Charcot-Marie-Tooth disease type 4F yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.
Definition from the Mondo Disease Ontology (MONDO:0013959), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
18 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.
- Enlarged cisterna magnaHPOHP:0002280
- 2 of 2 reported patients
- Onion bulb formationHPOHP:0003383
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 8 of 8 reported patients
- Loss of ambulationHPOHP:0002505
- 1 of 8 reported patients · Adult onset
- AreflexiaHPOHP:0001284
- Broad-based gaitHPOHP:0002136
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.
- PRXHGNC:13797
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: Charcot-Marie-Tooth disease type 4F
- Also called
- Charcot-Marie-Tooth disease type 4 caused by mutation in PRXCharcot-Marie-Tooth disease, type 4FCMT4FPRX Charcot-Marie-Tooth disease type 4