Electrodiagnostic approach to the patient with suspected motor neuron disease

摘要: Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive, neurodegenerative disorder involving motor neurons in the cerebral cortex, brainstem, and spinal cord. Specifically targeted are giant Betz cells of cortex brainstem cord with exception oculomotor nuclei nucleus sacral (nucleus Onuf) that controls external urethral anal sphincters [1]. The clinical findings develop over time comprise combination upper neuron (UMN) signs (loss dexterity, spasticity, hyperreflexia, pathological reflexes), lower (LMN) (muscle weakness, atrophy, fasciculations) widespread distribution. annual incidence 1 to 2 per 100,000 population prevalence about 6 [2,3]. There slight male predominance approximately 1.5 men woman. disease occurs throughout adult life peak occurring between 55 70 years age. Age most significant risk factor for ALS. Most cases sporadic but 5% 10% familial majority inherited an autosomal dominant fashion. About 20% these have been attributed mutations gene coding Cu/Zn-superoxide dismutase (SOD1). average survival after onset ALS symptoms 3 25% patients survive (without intervention respiratory support) at least 5 more than excess 10 [2]. Patients longer display poorly understood ‘‘resistance’’ [4] may benign form disease. diagnosis se be challenging because there no single diagnostic test (with finding mutation Neurol Clin N Am 20 (2002) 527–555