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NeurologicalICD-10: G12.21Affects approximately 5 per 100,000 people worldwide

Amyotrophic Lateral Sclerosis (ALS)

Also known as: ALS, Lou Gehrig's Disease, Motor Neuron Disease

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that attacks the motor neurons responsible for controlling voluntary muscle movement, leading to muscle weakness, atrophy, and eventually paralysis. Often called Lou Gehrig's disease, ALS affects both upper and lower motor neurons, causing difficulty with walking, speaking, swallowing, and breathing. There is currently no cure, but treatments can slow progression and improve quality of life.

Symptoms

Muscle weakness in the hands, feet, arms, or legs
Slurred or nasal speech (dysarthria)
Difficulty swallowing (dysphagia)
Muscle twitching and cramping (fasciculations)
Tripping, dropping things, or difficulty with fine motor tasks
Uncontrollable episodes of laughing or crying (pseudobulbar affect)
Progressive difficulty breathing
Muscle stiffness and spasticity

Causes

  • Degeneration of upper and lower motor neurons in the brain and spinal cord
  • Genetic mutations, particularly in the SOD1 and C9orf72 genes (familial ALS)
  • Abnormal protein aggregation and cellular toxicity
  • Glutamate excitotoxicity causing nerve cell damage
  • Mitochondrial dysfunction in motor neurons

Risk Factors

  • Age between 40 and 70 years
  • Family history of ALS (5-10% of cases are familial)
  • Male sex (slightly higher incidence before age 65)
  • Military service, potentially due to environmental exposures
  • Smoking
  • Exposure to certain environmental toxins such as lead or pesticides

Diagnosis

  • Electromyography (EMG) to detect abnormal electrical activity in muscles
  • Nerve conduction studies to assess peripheral nerve function
  • MRI of the brain and spinal cord to rule out other conditions
  • Blood and urine tests to exclude other diagnoses
  • Genetic testing for familial ALS mutations

Treatment

  • Riluzole (Rilutek) to slow disease progression by reducing glutamate levels
  • Edaravone (Radicava) intravenous therapy to slow functional decline
  • Tofersen for SOD1 gene mutation-associated ALS
  • Physical and occupational therapy to maintain mobility and independence
  • Speech therapy and assistive communication devices
  • Nutritional support including feeding tubes when swallowing becomes unsafe
  • Non-invasive ventilation (BiPAP) for respiratory support

Prevention

  • No proven prevention exists for ALS
  • Genetic counseling for families with a history of familial ALS
  • Avoid known environmental risk factors such as smoking and toxic exposures
  • Maintain a healthy lifestyle with regular exercise and balanced nutrition

When to See a Doctor

  • You experience progressive muscle weakness or unexplained muscle twitching
  • Difficulty speaking, swallowing, or breathing develops gradually
  • You have a family history of ALS and notice early symptoms

Frequently Asked Questions

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