Charcot-Marie-Tooth disease axonal type 2Q
Findings
No curated finding names Charcot-Marie-Tooth disease axonal type 2Q yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.
Definition from the Mondo Disease Ontology (MONDO:0014012), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
7 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.
- Distal lower limb muscle weaknessHPOHP:0009053
- 8 of 8 reported patients
- HyporeflexiaHPOHP:0001265
- 8 of 8 reported patients
- Pes cavusHPOHP:0001761
- 8 of 8 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 8 of 8 reported patients
- Somatic sensory dysfunctionHPOHP:0003474
- 8 of 8 reported patients
- Impaired distal vibration sensationHPOHP:0006886
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.
- DHTKD1HGNC:23537
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: Charcot-Marie-Tooth disease axonal type 2Q
- Also called
- autosomal dominant Charcot-Marie-Tooth disease type 2QCharcot-Marie-Tooth disease caused by mutation in DHTKD1CMT2QDHTKD1 Charcot-Marie-Tooth disease