Conditions / Musculoskeletal
Charcot-Marie-Tooth disease dominant intermediate F
info · Musculoskeletal · ICD-10: G60.0
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28.
Signs and symptoms
- Onion bulb formation
- Peripheral demyelination
- Distal lower limb muscle weakness
- Hammertoe
- Distal lower limb amyotrophy
- Absent Achilles reflex
- Absent patellar reflexes
- Impaired vibratory sensation
- Impaired pain sensation
- Steppage gait
Also known as: CMTDIF; autosomal dominant intermediate Charcot-Marie-Tooth disease type F