Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
MONDO:0025622Mondo
Findings
No curated finding names Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Mitochondrial inheritance
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.
- Fiber type groupingHPOHP:0033685
- 4 of 4 reported patients
- Mitochondrial hypertrophyHPOHP:0033686
- 2 of 2 reported patients
- Sensory ataxiaHPOHP:0010871
- 42 of 44 reported patients
- Pes cavusHPOHP:0001761
- 37 of 44 reported patients
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 2 of 3 reported patients
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 2 of 3 reported patients
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 2 of 3 reported patients
- Babinski signHPOHP:0003487
- 28 of 44 reported patients
- Impaired vibratory sensationHPOHP:0002495
- 26 of 44 reported patients
- Impaired proprioceptionHPOHP:0010831
- 23 of 44 reported patients
- Distal upper limb muscle weaknessHPOHP:0008959
- 10 of 44 reported patients
- Interosseus muscle atrophyHPOHP:0007181
- 10 of 44 reported patients
Show the remaining 10
- Thenar muscle atrophyHPOHP:0003393
- 10 of 44 reported patients
- Equinovarus deformityHPOHP:0008110
- 5 of 44 reported patients
- Spastic paraparesisHPOHP:0002313
- 5 of 44 reported patients
- Neurogenic bladderHPOHP:0000011
- 1 of 44 reported patients
- Distal lower limb amyotrophyHPOHP:0008944
- Distal lower limb muscle weaknessHPOHP:0009053
- Gait disturbanceHPOHP:0001288
Where it sits
- A kind of
Other names
1 name
Resolves to: Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
- Also called
- CMTMA1