Disease association ontology term - MONDO:0014733 - Charcot-Marie-Tooth disease type 4K
Term summary
- ID
- MONDO:0014733
- Name
- Charcot-Marie-Tooth disease type 4K
- Ontology or CV name
- Disease association
- Definition
- SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).
