Infantile parkinsonism-dystonia, type 1 (case report)

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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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About the authors

Lyudmila M. Kuzenkova

National Medical Research Center for Children’s Health

Russian Federation, Moscow

Lale A. Pak

National Medical Research Center for Children’s Health; I.M. Sechenov First Moscow State Medical University (Sechenov University)

Author for correspondence.

MD, Ph.D., DSci., Head of the Center for rare diseases 

Russian Federation, Moscow

Olga B. Kondakova

National Medical Research Center for Children’s Health

Russian Federation, Moscow

Anastasia A. Lyalina

National Medical Research Center for Children’s Health

Russian Federation, Moscow

Polina G. Tsygankova

Academician N.P. Bochkov Medical and Genetic Research Center

Russian Federation, Moscow

Ilya V. Kanivets

Laboratory of molecular pathology “Genomed”

Russian Federation, Moscow

Dmitry I. Grebenkin

National Medical Research Center for Children’s Health

Russian Federation, Moscow

Natalia V. Lapshina

National Medical Research Center for Children’s Health

Russian Federation, Moscow


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Supplementary files

Supplementary Files
1. Fig. 1. Scheme of regulation of the dopaminergic synapse

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2. Fig. 2. Algorithm for diagnosing hyperkinesis of different etiologies [3]

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3. Fig. 3. Various manifestations of hyperkinetic syndrome in patient C.

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4. Fig. 4. MRI of the brain of patient C.

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5. Fig. 5. Absence of hyperkinetic syndrome during PG therapy (1 month catamnesis)

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6. Fig. 6. Scheme for the synthesis of dopamine

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Copyright (c) 2020 Kuzenkova L.M., Pak L.A., Kondakova O.B., Lyalina A.A., Tsygankova P.G., Kanivets I.V., Grebenkin D.I., Lapshina N.V.

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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

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