Clinical Neurophysiology in Pediatric Neurometabolic Disorders

Vol 8, No 4 (2014): Iran J Child Neurol 2014 Autumn; 8(4): suppl.1

You can see full article in below link: 

http://journals.sbmu.ac.ir/index.php/ijcn/article/view/7519/6062 

Mahmoud MOHAMMADI

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 How to Cite This Article: Mohammadi M. Clinical Neurophysiology in Pediatric Neurometabolic Disorders. Iran J Child Neurol Autumn 2014;8:4 (suppl.1):7 

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Abstract- Various disorders result from genetically determined abnormalities
of enzymes, the metabolic consequences of which affect the development or
functioning of the nervous system. The range of metabolic disturbances is wide,
as is the resultant range of clinical syndromes. Although most occur in children,
some can present in adult life, and increasing numbers of affected children survive
into adult life. In some, The last 20 years has seen a considerable expansion in our
understanding of the genetic and metabolic basis for many neurological conditions.
Particular clinical presentations of neurometabolic disorders include ataxias,
movement disorders, childhood epilepsies, or peripheral neuropathy. Although
individual metabolic disorders are rare, collectively such disorders are relatively
common.
Clinical neurophysiology has an important role in studying these disorders.
Although the technics have a low specificity, but it has a high sensitivity. In other
words, clinical neurophysiologic studies are good means to determine the severity
of disorders as well as follow-up.
In my talk, I will address to the issue in detail and will share my experience in the
field.
Keywords: Clinical neurophysiology, Pediatric, Neurometabolic disorders, EEG,
EMG