Conditions / Musculoskeletal
Charcot-Marie-Tooth disease type 2R
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.
Signs and symptoms
- Decreased motor nerve conduction velocity
- Delayed ability to walk
- Pes cavus
- Hypotonia
- Areflexia
- Muscle weakness
- Intrinsic hand muscle atrophy
- Peripheral axonal neuropathy
- Broad-based gait
- Inability to walk
Also known as: CMT2R; Charcot-Marie-Tooth neuropathy type 2R; autosomal recessive axonal Charcot-Marie-Tooth disease type 2R