Conditions / Musculoskeletal
Charcot-Marie-Tooth disease axonal type 2O
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
Signs and symptoms
- Distal muscle weakness
- Pes cavus
- Motor delay
- Hyporeflexia
- Limb muscle weakness
- Difficulty running
- Peripheral neuropathy
- Distal sensory impairment
- Frequent falls
- Delayed speech and language development
Also known as: Charcot-Marie-Tooth neuropathy axonal type 2O; autosomal dominant Charcot-Marie-Tooth disease type 2O; autosomal dominant axonal Charcot-Marie-Tooth disease type 2O