Infantile parkinsonism-dystonia, type 1 (case report)

Infantile parkinsonism-dystonia, type 1 (DTDS) (OMIM 613135) is a rare inherited autosomal recessive disease that manifests in infancy. The development of the disease is caused by a homozygous or compound-heterozygous mutation in the SLC6A3 gene (OMIM 126455), which encodes a dopamine Transporter localized on the short arm of chromosome 5 (5p15). The main pathogenetic mechanism of the disease is the loss of the function of the main dopamine transporter at the presynaptic level, which leads to a decrease in the reuptake of dopamine in the synaptic cleft, depletion of presynaptic dopamine reserves, and an increase in the amount of extraneuronal dopamine. Currently, there are 20 cases of this disease in children in the world. The main clinical manifestations of DTDS are various hyperkinesis patterns (dystonia, chorea, athetosis, etc.), followed by hypokinesia and rigidity, developing against the background of axial hypotension. Difficulties in differential diagnosis lead to the fact that many patients are observed for years with erroneous clinical diagnoses, including cerebral palsy, regularly receiving rehabilitation treatment without clinical effect. The mentioned above explains the need for clinicians to be aware of a rare disease - DTDS, which will avoid diagnostic errors, prescribe adequate therapy promptly, and thereby significantly improve the quality of life of patients and their families. The article contains an overview of the etiological, pathogenetic, epidemiological, diagnostic, and therapeutic aspects of DTDS. For the first time in Russia, there is reported a clinical case of this rare disease, which presents the own experience with DTDS patient.

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