Charcot-Marie-Tooth disease axonal type 2L
Findings
No curated finding names Charcot-Marie-Tooth disease axonal type 2L 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 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.
Definition from the Mondo Disease Ontology (MONDO:0012096), 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
11 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.
- Decreased amplitude of sensory action potentialsHPOHP:0007078
- 6 of 6 reported patients
- Decreased number of large peripheral myelinated nerve fibersHPOHP:0003387
- 1 of 1 reported patient
- Pes cavusHPOHP:0001761
- 14 of 18 reported patients
- ScoliosisHPOHP:0002650
- 3 of 18 reported patients
- AreflexiaHPOHP:0001284
- Distal amyotrophyHPOHP:0003693
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.
- HSPB8HGNC:30171
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- 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 2L
- Also called
- autosomal dominant Charcot-Marie-Tooth disease type 2LCharcot-Marie-Tooth disease type 2 caused by mutation in HSPB8CMT2LHSPB8 Charcot-Marie-Tooth disease type 2