Charcot-Marie-Tooth disease X-linked recessive 2
Findings
No curated finding names Charcot-Marie-Tooth disease X-linked recessive 2 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 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals.
Definition from the Mondo Disease Ontology (MONDO:0010550), read 2026-09-29. CC BY 4.0.
Features
26 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.
- AreflexiaHPOHP:0001284
- Frequent (30% to 79% of cases)
- Decreased motor nerve conduction velocityHPOHP:0003431
- Frequent (30% to 79% of cases)
- Distal lower limb amyotrophyHPOHP:0008944
- Frequent (30% to 79% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Frequent (30% to 79% of cases)
- Distal sensory impairmentHPOHP:0002936
- Frequent (30% to 79% of cases)
- EMG: chronic denervation signsHPOHP:0003444
- Frequent (30% to 79% of cases)
- Foot dorsiflexor weakness
Show the remaining 14
- Pes cavusHPOHP:0001761
- Frequent (30% to 79% of cases)
- Steppage gaitHPOHP:0003376
- Frequent (30% to 79% of cases)
- Tibialis anterior muscle atrophyHPOHP:0011399
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Occasional (5% to 29% of cases)
- Clasp-knife signHPOHP:0031866
- Occasional (5% to 29% of cases)
- Hyperactive deep tendon reflexesHPOHP:0006801
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
8 names
Resolves to: Charcot-Marie-Tooth disease X-linked recessive 2
- Also called
- Charcot Marie Tooth disease X-linked recessive 2Charcot-Marie-Tooth disease X-linked recessive type 2Charcot-Marie-Tooth disease, X-linked recessive, 2Charcot-Marie-Tooth neuropathy, X-linked recessive, 2Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessiveCMTX 2CMTX2X-linked Charcot-Marie-Tooth disease type 2