Charcot-Marie-Tooth disease type 4K

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.

Signs and symptoms

• Kyphoscoliosis
• Skeletal muscle atrophy
• Hearing impairment
• Gait disturbance
• Dystonia
• Easy fatigability
• Increased circulating lactate concentration
• Ataxia
• Areflexia
• Peripheral demyelination

Also known as: CMT4K; SURF1-related CMT4; SURF1-related Charcot-Marie-Tooth disease type 4; SURF1-related severe demyelinating Charcot-Marie-Tooth disease; autosomal recessive Charcot-Marie-Tooth disease type 4K