/Charcot-Marie-Tooth disease type 4K

Charcot-Marie-Tooth disease type 4K

Rare Disease

MONDO:0014733

Also Known As

CMT4KCharcot-Marie-Tooth disease type 4 caused by mutation in SURF1Charcot-Marie-Tooth disease type 4KCharcot-Marie-Tooth disease, type 4kSURF1 Charcot-Marie-Tooth disease type 4SURF1-related CMT4SURF1-related Charcot-Marie-Tooth disease type 4SURF1-related severe demyelinating Charcot-Marie-Tooth diseaseautosomal recessive demyelinating Charcot-Marie-Tooth disease type 4Kautosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4KCharcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4KCharcot-Marie-Tooth disease, type 4KCharcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K

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).