Conditions / Musculoskeletal
Charcot-Marie-Tooth disease axonal type 2Z
info · Musculoskeletal
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12.
Signs and symptoms
- Decreased motor nerve conduction velocity
- Decreased amplitude of sensory action potentials
- Foot dorsiflexor weakness
- Babinski sign
- Hearing impairment
- Hypotonia
- Muscle spasm
- Fasciculations
- Intrinsic hand muscle atrophy
- Proximal muscle weakness
Also known as: CMT2Z; Charcot-Marie-Tooth neuropathy type 2Z; autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z