The group of patients with children cerebral palsy represents a significant proportion of the spectrum of patients seen in pediatric neurology outpatient clinics. These are children who present with clinically variable motor impairments, covering a wide range of severity. Cerebral palsy is a highly heterogeneous syndrome characterized by a permanent motor disorder causing functional limitations, resulting from a non-progressive lesion occurring during the development of the fetal or infant brain. Care for these children is multidisciplinary and symptomatic, as no causal therapy currently exists. Under the term cerebral palsy, however, a number of patients are often included who present with movement disorders but have no perinatal risk factors, show normal findings on brain MRI, and whose motor impairment becomes clinically apparent only after a certain age and shows a progressive course. These patients often exhibit abnormalities in muscle tone combined with extrapyramidal symptoms such as dystonia, chorea, ballismus, myoclonus, and others. These syndromes are referred to as “cerebral palsy mimics”, and it is crucial to identify and diagnose these patients specifically and, in selected cases, to offer them personalized treatment.
The etiology of the disease in these patients often lies in one of the inherited metabolic disorders, where the clinical presentation is usually complex and, in addition to motor impairment, other organ systems are also affected. There is also a group of neurogenetic primary dystonias in which the manifestation of the extrapyramidal syndrome is dominant and typically progressive in nature. In certain cases, this extends our therapeutic possibilities. For our patients, we can therefore offer modalities of personalized treatment, ranging from substitution therapy to gene therapy. A specific option for primary dystonias is the implantation of deep brain stimulation, which can be highly effective in alleviating extrapyramidal symptoms. This procedure is performed in collaboration with the Center for Abnormal Movements at the First Department of Neurology, St. Anne’s University Hospital. As part of symptomatic therapy, we also offer options to reduce manifestations of spasticity and hyperkinetic movements, such as botulinum toxin injections or intrathecal baclofen pump implantation. However, the care for these patients remains multidisciplinary. Coordination and collaboration among various specialties are essential, and regular team meetings to discuss complex cases are of great benefit, with the goal of providing the most effective and comprehensive care possible for our children and their families.
Care for patients with primary dystonias is provided in collaboration with the Center for Abnormal Movements at the First Department of Neurology, St. Anne’s University Hospital (FNUSA), where we represent the pediatric section of the ERN-RND Dystonia Center. Regular meetings of the extrapyramidal team are held there, during which patient cases are presented and discussed.
The diagnostics of patients with cerebral palsy mimics is carried out in collaboration with the laboratories of CEITEC Masaryk University and the Institute of Biology, Faculty of Medicine, Masaryk University (research group of Prof. Slaby and Petra Pokorna), where next-generation sequencing analyses are performed. We are also collaborating on the GenDy project (whole-exome sequencing of primary dystonias) led by the Helmholtz Center in Munich, in cooperation with Prof. Jech from the General University Hospital in Prague. Our current goal is to reclassify patients with cerebral palsy mimics and provide them with a precise genetic diagnosis, which often not only expands therapeutic possibilities but is also crucial for prenatal counselling.
Contact person:
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Assoc. Prof. Pavlina Danhofer, M.D., Ph.D.Head of the Department of Pediatric Neurology, University Hospital Brno (FN Brno) and Faculty of Medicine, Masaryk University (LF MU) Email: |