Z.G. KHAYATOVA^1, 2, Z.A. ZALYALOVA^1, 2, A.YU. KAZANTSEV¹, T.V. MATVEYEVA¹

 ¹Kazan State Medical University, Kazan

²Republic Consultative and Diagnostic Center for Movement Disorders and Botulinum Therapy, Kazan

Contact details:

Khayatova Z.G. — post-graduate student of the Department of Neurology and Rehabilitation

Address: 65 Ershov St., Russian Federation, Kazan, 420061, tel.: +7-987-298-99-09, e-mail: hayatova@list.ru

The authors present a case-report of genetically tested dopa-responsive dystonia, also known as Segawa’s syndrome, in a 32-year-old woman. The genetic forms and their clinical presentation are described. Symptoms began in early childhood with running disability. The patient’s first complaint was twisting of her toes during walking when she was 12 years old. The condition remained stable up to 20 y. o., when some improvement was noticed. Symptoms progressed with involvement of upper limbs at the age of 25. By the age of 32 the patient was directed to Movement Disorders Clinic, where Dopa-responsive dystonia was suspected. The manifestations were dramatically responsive to low doses of levodopa-carbidopa, confirming the diagnosis of dopa-responsive dystonia. The genetic test identified a GCH1 (chr14:55369161G>A) pathogenic mutation.

Key words: hereditary dystonia, Segawa’s syndrome, dopa-responsive dystonia, DYT5, GCH1 gene.

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