Abstract

*Duddela Yamini (M. Pharm)

ABSTRACT

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Gradually, spasticity may develop in the weakened atrophic limbs, affecting manual dexterity and gait. Patients with bulbar onset ALS usually present with dysarthria and dysphagia for solid or liquids, and limbs symptoms can develop almost simultaneously with bulbar symptoms, and in the vast majority of cases will occur within 1–2 years. Paralysis is progressive and leads to death due to respiratory failure within 2–3 years for bulbar onset cases and 3–5 years for limb onset ALS cases. Two percent of apparently sporadic patients have SOD1 mutations, and TARDBP mutations also occur in sporadic cases. The diagnosis is based on clinical history, examination, electromyography, and exclusion of 'ALS-mimics' (e.g. cervical spondylotic myelopathies, multifocal motor neuropathy, Kennedy's disease) by appropriate investigations. Signs of upper motor neurone and lower motor neurone damage not explained by any other disease process are suggestive of ALS. The management of ALS is supportive, palliative, and multidisciplinary. Analysis of large patient samples drawn from clinic based populations or population registries consistently show that the overall median survival from onset of symptoms for ALS ranges between 2–3 years for bulbar onset cases and 3–5 years for limb onset ALS cases. Large clinic cohort studies have shown 3 year and 5 year survival tares to be around 48% and 24% respectively, with approximately 4% surviving longer than 10 years, whereas 5 year survival reported in population based studies is much lower and ranges from 4–30%