Conditions / Musculoskeletal
Charcot-Marie-Tooth disease type 4C
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 SH3TC2 gene.
Signs and symptoms
- Distal muscle weakness
- Distal sensory impairment
- Distal amyotrophy
- Scoliosis
- Facial palsy
- Decreased motor nerve conduction velocity
- Delayed brainstem auditory evoked response conduction time
- Motor delay
- Abnormal cranial nerve morphology
- Tongue atrophy
Also known as: CMT4C; Charcot-Marie-Tooth neuropathy type 4C; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C