Charcot-Marie-Tooth disease X-linked dominant 6
Findings
No curated finding names Charcot-Marie-Tooth disease X-linked dominant 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0010479), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
22 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.
- Absent Achilles reflexHPOHP:0003438
- 5 of 5 reported patients · Male
- 3 of 8 reported patients · Female
- Very frequent (80% to 99% of cases)
- Distal lower limb amyotrophyHPOHP:0008944
- 5 of 5 reported patients · Male
- 4 of 8 reported patients · Female
- Very frequent (80% to 99% of cases)
- Hand muscle weaknessHPOHP:0030237
- 5 of 5 reported patients · Male
- Impaired distal vibration sensationHPOHP:0006886
- 5 of 5 reported patients · Male
- 2 of 8 reported patients · Female
- Impaired pain sensationHPOHP:0007328
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.
- PDK3HGNC:8811
- Definitive · ClinGen · X-linked · 2024
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
- Limited · Ambry Genetics · X-linked · 2018
Where it sits
- A kind of
Other names
5 names
Resolves to: Charcot-Marie-Tooth disease X-linked dominant 6
- Also called
- Charcot-Marie-Tooth disease X-linked dominant type 6Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominantCharcot-Marie-Tooth disease, X-linked dominant, type 6CMTX6X-linked Charcot-Marie-Tooth disease type 6