| Abstract [eng] |
Segawa Dystonia is a rare genetically inherited neurological movement disorder, usually presenting in childhood, characterised by fluctuating symptoms throughout the day and a good response to medical treatment with levodopa/carbidopa medications. It is caused by mutations in the genes that encode the enzymes responsible for dopamine or tetrahydrobiopterin biosynthesis. Autosomal Dominant Segawa Dystonia is associated with a mutation in the Guanosine Triphosphate Cyclohydrolase I gene, while the recessive form of the disease is caused by a mutation in the Tyrosine Hydroxylase gene. The symptoms of Segawa Dystonia vary depending on the mutation causing the disease, and include not only motor, but also cognitive and psychiatric symptomatology, and progress over time, making early diagnosis difficult, and timely treatment is important to manage the symptoms and improve the prognosis of affected patients. Although Segawa Dystonia is a rare disorder, raising awareness and understanding of the disease among medical personnel can help to improve diagnosis and treatment options and lead to better outcomes for patients. In order to bring this rare condition to a wider audience a clinical case is presented. We describe an 8-year-old boy who presented with the first symptoms of Segawa Dystonia at 15 months of age with gait disturbance and episodic dystonia at 28 months of age. Untreated, the disease progressed further and regression of symptoms was observed at the age of 4 years 4 months after genetic confirmation of the diagnosis of Segawa's Dystonia and the initiation of low-dose levodopa/carbidopa treatment. The clinical case reflects the heterogeneous clinical presentation, the difficulties in diagnosis and differential diagnosis and the positive clinical response to medical treatment. The paper also reviews the recent scientific literature and describes movement disorders in children, the pathophysiology, clinical presentation, diagnosis, differential diagnosis and treatment of Segawa Dystonia. |
