charcot-marie-tooth disease, axonal, type 2MM
MONDO:0980971Mondo
Findings
No curated finding names charcot-marie-tooth disease, axonal, type 2MM yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
32 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.
- Ankle instabilityHPOHP:0020309
- 1 of 1 reported patient
- Cervical spondylosisHPOHP:0008480
- 2 of 2 reported patients
- Decreased amplitude of sensory action potentialsHPOHP:0007078
- 8 of 8 reported patients
- Decreased compound muscle action potential amplitudeHPOHP:0033383
- 8 of 8 reported patients
- DepressionHPOHP:0000716
- 1 of 1 reported patient
- Distal lower limb amyotrophyHPOHP:0008944
- 8 of 8 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 8 of 8 reported patients
- Frequent fallsHPOHP:0002359
- 1 of 1 reported patient
- HammertoeHPOHP:0001765
- 4 of 4 reported patients
- Impaired distal proprioceptionHPOHP:0006858
- 1 of 1 reported patient
- Impaired distal tactile sensationHPOHP:0006937
- 4 of 4 reported patients
- Impaired pain sensationHPOHP:0007328
- 6 of 6 reported patients
Show the remaining 20
- Impaired tactile sensationHPOHP:0010830
- 4 of 4 reported patients
- Impaired temperature sensationHPOHP:0010829
- 6 of 6 reported patients
- Impaired vibration sensation in the lower limbsHPOHP:0002166
- 8 of 8 reported patients
- Mildly elevated creatine kinaseHPOHP:0008180
- 1 of 1 reported patient
- Pes cavusHPOHP:0001761
- 6 of 6 reported patients
- Sensory ataxiaHPOHP:0010871
- 1 of 1 reported patient
Where it sits
- A kind of