Article Text
Abstract
Movement disorders are neurological syndromes affecting either the voluntary movements, or implying abnormal postures and also a large category of involuntary movements.
The movement disorders in children are difficult to classify and describe and most of the time need repeated video visualisation. In children the difficult part is to establish the main symptom, the dominant movement disorder, taking into consideration the variable pattern of symptoms with age and also in the context of the causative disease progression.
The aim of the presentation is to help distinguish between different movement disorders, emphasising clinical clues and key-investigations which could offer a rapid aetiology orientation. Acute or chronic movement disorders, permanent or episodic, progressive or not will be exemplified through cases from the experience of a tertiary clinic of paediatric neurology.
What would the algorithm of investigation of the ataxic child should be? What questions should be asked when facing a child with acute onset or at the other end of the spectrum – a progressive ataxia? Acute intoxication, opsoclonus-myoclonus, ataxia-telangiectasia, neuronal ceroid lipofuscinosis will be examples for these situation. The extrapyramidal, dyskinetic child will be presented in various instances – the chronic presentation being a sign in many neurometabolic conditions: Lesch-Nyhan, monocarboxylate transporter 8 deficiency, glutaric aciduria type 1, mitochondrial and neurotransmitters disorders will be a few examples of different situations.
Conclusion The semiological recognition of the patterns of abnormal movements and the model of evolution help the etiological diagnostic, the history taken from patient and family and the videos being very useful for identifying correctly the abnormal movement. In approaching a child with movement disorder we should think simple, in well defined steps, starting from simple investigations and moving forward in an individualised manner. Early diagnosis might allow early treatment, anticipatory management of complications, sometimes improving outcome and ultimately the quality of life and also would allow in a number of cases genetic advise for the affected families.