The evaluation of children with suspected neurodegenerative disorders (NDD) requires good background knowledge, accurate assessment, and formulation of a list of differential diagnoses. The initial clinical assessment would guide the physician in requesting the required laboratory investigations in order to reach a specific diagnosis. Reaching a specific diagnosis is of clear importance for providing appropriate therapy, prognosis, and genetic counselling. Many students, residents, and fellows consider neurological disorders, particularly NDD, difficult to master. This reflects the diversity and complexity of various neurological disorders. Different classification systems exist making these disorders confusing to most physicians. However, in this chapter a concise and simple outline with practical tips to facilitate the diagnosis of various NDD will be presented. Important diagnostic tips and possible pitfalls will be discussed, as well as updates in terms of the diagnostic and therapeutic interventions.
Keywords: Degenerative, Metabolic, Motor, Development, Regression, White matter, Grey matter, Leukodystrophy, Mitochondria, Lysosomal.