Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that damages motor neurons, causing worsening muscle weakness, paralysis, and often respiratory failure.

Motor neuron: A nerve cell that carries signals from the brain or spinal cord to muscles or glands. ALS progressively destroys upper and lower motor neurons that control voluntary muscles.
Muscle weakness: Reduced ability of a muscle or group of muscles to generate force. Progressive weakness is the central functional consequence of motor-neuron loss in ALS.
SOD1: A gene encoding an enzyme that converts superoxide radicals into less reactive molecules. Inherited SOD1 variants were among the first established genetic causes of ALS.
Riluzole: A medication used to modestly slow disease progression in amyotrophic lateral sclerosis. It is a long-standing ALS treatment thought to reduce glutamate-related excitotoxicity.
Dysarthria: Impaired speech production caused by weakness or poor coordination of the muscles used for speaking. ALS can weaken speech muscles, making articulation slow or difficult.
Upper motor neuron: A motor neuron in the brain or brainstem that influences movement through connections to lower motor neurons. Its degeneration contributes to stiffness, brisk reflexes, and other signs of ALS.
Muscle atrophy: A decrease in muscle size, often caused by loss of nerve supply or reduced use. Denervated muscles shrink as ALS damages the neurons that activate them.
C9orf72: A gene in which a repeated DNA sequence expansion can cause ALS and frontotemporal dementia. Its repeat expansion is a common genetic cause of familial ALS and some apparently sporadic cases.
Edaravone: An antioxidant medication approved for treating amyotrophic lateral sclerosis in some countries. Clinical trials found a modest slowing of functional decline in a selected group of people with ALS.
Dysphagia: Difficulty swallowing food, liquids, or saliva. Bulbar muscle involvement in ALS can impair safe and effective swallowing.

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