Conditions / Musculoskeletal
Charcot-Marie-Tooth disease axonal type 2CC
info · Musculoskeletal
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12.
Signs and symptoms
- Lower limb muscle weakness
- EMG: neuropathic changes
- Babinski sign
- Lower limb amyotrophy
- Elevated circulating creatine kinase activity
- Upper limb amyotrophy
- Upper limb muscle weakness
- Muscle fiber splitting
- Pyloric stenosis
- Myopathy
Also known as: CMT2CC; Charcot-Marie-Tooth neuropathy type 2CC