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).
MONDO:0016387
mitochondrial oxidative phosphorylation disorder
is_a
MONDO:0018995
Charcot-Marie-Tooth disease type 4
is_a
CMT4K
exact
Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1
exact
Charcot-Marie-Tooth disease type 4K
exact
Charcot-Marie-Tooth disease, type 4k
exact
SURF1 Charcot-Marie-Tooth disease type 4
exact
SURF1-related CMT4
exact
SURF1-related Charcot-Marie-Tooth disease type 4
exact
SURF1-related severe demyelinating Charcot-Marie-Tooth disease
exact
SPBC1215.01