Conditions / Musculoskeletal
Charcot-Marie-Tooth disease type 4B3
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q.
Signs and symptoms
- Skeletal muscle atrophy
- Myelin outfoldings
- Upper limb muscle weakness
- Onion bulb formation
- Areflexia
- Muscle fibrillation
- Distal lower limb muscle weakness
- Lower limb muscle weakness
- Distal sensory impairment
- Decreased nerve conduction velocity
Also known as: CMT4B3