First experience of botulinum toxin type A therapy in Russia in comprehensive therapy for Wilson–Konovalov disease diagnosed at the age of 12 years

The main forms of orphan Wilson–Konovalov disease – cerebral, abdominal and mixed forms, with copper accumulation in the central nervous system, patients debut spastic and dystonic attacks. The authors demonstrate the clinical example of the efficiency and safety of botulinum toxin type A for the relief of spastic and dystonic attacks and pain syndrome in a 12-year-old child with severe multiple contractures of the upper and lower limbs with a resistant Wilson–Konovalov disease’s form. A 12-year-old patient (male) with primary diagnosed resistant form of Wilson–Konovalov disease with deformities of pyramidal-extropyramidal type was diagnosed with contractures of the tongue, deviation of the mandible; contractures of the right shoulder joint, flexor contracture of the right elbow joint, flexion-ulnar contracture of the right wrist joint, flexion contracture of the fingers and severe extensor contracture of the left elbow joint, extensor-ulnar contracture of the left wrist joint, equinovarus contracture of the ankle joints. The patient received two-stage botulinum therapy according to the spasticity and dystonia protocol. Carrying out the first stage of botulinum therapy according to the spasticity protocol gave positive dynamics. Less frequency of the dystonic attacks, the relief of pain syndrome. The extensor contracture was preserved, and a second stage of botulinum therapy was performed to preserve the joint for the soft tissue surgery. Botulinum neuroprotein therapy is fundamental in the treatment of resistant forms of Wilson–Konovalov disease in order to relief dystonic attacks, spasticity and pain syndrome, that can keep joints healthy.

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