Charcot-Marie-Tooth disease type 4K

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).

Also known as: CMT4K, Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1, Charcot-Marie-Tooth disease type 4K, Charcot-Marie-Tooth disease, type 4k, SURF1 Charcot-Marie-Tooth disease type 4, SURF1-related CMT4, SURF1-related Charcot-Marie-Tooth disease type 4, SURF1-related severe demyelinating Charcot-Marie-Tooth disease

49 clinical trials for this condition and its sub-types.