Medicina Fluminensis, Vol. 50 No. 1, 2014.
Review article
Amyotrophic lateral sclerosis
Mira Bučuk
; Klinika za neurologiju, KBC Rijeka, Rijeka
Kristina Dijan
; Medicinski fakultet Sveučilišta u Rijeci, Rijeka
Zoran Tomić
; Klinika za neurologiju, KBC Rijeka, Rijeka
Ivan Sonnenschein
; Klinika za neurologiju, KBC Rijeka, Rijeka
Abstract
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive muscular weakness. It affects both upper and lower motor neurons. Affected individuals typically present with either asymmetric weakness of the extremities or with bulbar symptoms (dysarthria, dysphagia). Weakness is always progressive and leads to death due to respiratory failure within 2-3 years in bulbar onset cases, and 3-5 years in spinal onset ALS cases. The mean age of ALS onset is 56 years. The incidence in Europe is 2–3 cases per 100,000 individuals in the general population. ALS is sporadic in 90 % of cases (SALS), whereas only 10 % is familial (FALS). The cause of ALS is unknown although some genetic risk factors have been identified. Mutations in superoxide dismutase gene (SOD1) account for 20 % of familial and 5 % of sporadic ALS. Other possible causes include higher than normal levels of glutamate, neurotrophic factor impairment, impairment of immune system and environmental factors (toxic metals, pesticides, and trauma). The diagnosis of ALS is based on clinical features, electro-diagnostic testing, and exclusion of conditions that can mimic ALS. Riluzole remains the only effective drug, and extends the average survival by 3 months. Optimal treatment is based on symptoms management and preservation of quality of life, provided in a multidisciplinary setting.
Keywords
bulbar symptoms; electromyography; motor neuron disease; palliative care nursing; respiratory failure; riluzole
Hrčak ID:
118493
URI
Publication date:
3.3.2014.
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