Ayesha Arif, Asvar Samaa, Aline Arif.
Neurodegenerative Disorders of Childhood - An Overview.
Pak Paed J Jan ;41(4):195-201.

Neurodegenerative diseases (NDDs) of childhood are a heterogeneous group of disorders that are characterized by progressive degeneration of structure and function of the central or peripheral nervous system leading to loss of previously achieved neurologic function. They are classified broadly into either grey matter or white matter diseases. Etiology of neurodegenerative disorders includes certain genetic and biochemical defects. However the exact etiopathogenesis of many of these disorders remains unknown. With the current advancements, diagnosis of a number of these diseases is made on the basis of specific neuroimaging findings and certain genetic and biochemical markers. History of regression of milestones is critical in making the correct diagnosis, and examination is needed to localize the disease process within the nervous system. Using a combination of clinical assessment, imaging findings, and clinical neurophysiology, protocols can be developed for reaching a specific diagnosis via certain biochemical and molecular investigations. Although the prognosis of this group of diseases is guarded, the importance of making a correct diagnosis cannot be overlooked. Prenatal diagnosis and genetic counselling of many of these diseases is possible with the current developments. Certain disorders if detected early via enzyme essays can be treated or symptoms minimized by presymptomatic enzyme replacement therapy or bone marrow transplant.

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