[Usefulness of neurophysiological techniques in the diagnosis of metabolic disorders].
OBJECTIVE
The author reviews the value of the electrophysiological techniques: electromyography (EMG), electroneurography or motor and sensitive nerve conduction velocity (MCV, SCV), brainstem auditory potentials (BAER), visual evoked potentials (VEP) and electroretinography (ERG), somatosensory evoked potentials (SEP), in the diagnosis of the different neurometabolic disorders.


METHODS
In different tables are listed 52 neurometabolic diseases that give abnormalities of myopathic or neuropathic type (motor or sensitive, axonal or demyelinating), 59 diseases with ERG or VEP abnormalities, 34 diseases with altered function of peripheral or brainstem auditory ways (BAER), and 13 with SEP abnormalities. In each case the frequency and type of the specific sensory pathway abnormality is expressed in order to increase the usefulness in the differential diagnosis.


CONCLUSIONS
Neurophysiological techniques often give an important help in the diagnosis of the neurometabolic disorders, making easier the selection of biochemical and histologic studies that will confirm the diagnosis.
Pascual-Pascual
S I
SI
Servicio de Neurología, Hospital Infantil La Paz, Madrid, España.
D004576:Electromyography / Q000379:methods; D004596:Electroretinography / Q000379:methods; D005073:Evoked Potentials, Somatosensory / Q000502:physiology; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*