Conditions / Musculoskeletal
Charcot-Marie-Tooth disease type 4J
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.
Signs and symptoms
- Hyporeflexia
- Decreased motor nerve conduction velocity
- Gait disturbance
- Distal arthrogryposis
- Onion bulb formation
- Distal muscle weakness
- Areflexia
- Peripheral hypomyelination
- Distal sensory impairment
- Ankle flexion contracture
Also known as: CMT4J; autosomal recessive Charcot-Marie-Tooth disease type 4J