Amyotrophic Lateral Sclerosis: A Review - PubMed
3 hours ago
- #Neurodegenerative Disease
- #Amyotrophic Lateral Sclerosis
- #Motor Neuron Disease
- ALS is a neurodegenerative disease causing progressive weakness due to motor neuron degeneration, affecting about 25,000 in the U.S.
- Symptoms start in focal body regions (limb, cranial, axial) and spread, combining upper (stiffness) and lower (weakness) motor neuron dysfunction, typically leading to death from respiratory failure.
- Sporadic ALS (85%) has no known causes, while familial ALS (15%) is genetic, with C9orf72 and SOD1 gene variants being most common.
- Diagnosis relies on clinical features, supported by electromyography; no cure exists, with a mean survival of 3 to 5 years post-diagnosis.
- FDA-approved therapies include riluzole and edaravone (oral) slowing progression by 2-4 months, and tofersen (intrathecal gene therapy) for SOD1 variants.
- Multidisciplinary care teams improve survival (4-7 months) and quality of life through symptom management and support.