Rare neurometabolic and immunological disorders in childrenKeywords:
Tutkimme ja hoidamme lapsia ja nuoria, joilla on harvinainen neurometabolinen tai neuroimmunologinen sairaus.
Neurometabolic diseases are hereditary rare diseases caused by metabolic disorders and they cause various developmental abnormalities and neurological symptoms. Many diseases are progressive in nature.
The child may have a developmental delay or a decline, or the child may have, for example, movement disorders, seizure symptoms, or sensory dysfunction. The necessary examinations are individually planned on the basis of a clinical examination and screening tests. Advanced genetic testing has enabled more and more patients to have an accurate diagnosis. Most neurometabolic diseases do not have a targeted treatment, but we can help pediatric patients in many ways with symptomatic treatment and individual rehabilitation.
Neuroimmunological diseases are inflammatory diseases caused by immune system diseases in the central nervous system. Diseases in children often begin after an infection or another type of stress situation in the body. The disease group includes multiple sclerosis (MS), acute disseminated encephalomyelitis (ADEM), myasthenia gravis, transverse myelitis, and other rare neuroimmunological diseases. Many types of pharmacotherapy are used for treating neuroimmunological diseases.
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