Conditions / Musculoskeletal
Charcot-Marie-Tooth disease X-linked recessive 4
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Increased circulating lactate dehydrogenase concentration
- Elevated circulating hepatic transaminase concentration
- Hearing impairment
- Sensory axonal neuropathy
- Distal lower limb muscle weakness
- Motor axonal neuropathy
- Distal sensory impairment
- Muscle weakness
- Sensory neuropathy
Also known as: CMT4X; CMTX4; Charcot-Marie-Tooth disease with deafness and mental retardation; Cowchock syndrome; NADMR