Read more about

amyotrophic lateral sclerosis

Also known as
ALS

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a neurodegenerative disorder that results in progressive degeneration and eventual death of nerve cells in the brain, brainstem and spinal cord. These nerve cells (motor neurons) are ordinarily responsible for the body’s ability to initiate and control voluntary movement, and as a result of the disease, this ability is lost. The symptoms of ALS worsen over time, eventually affecting an individual’s ability to move, speak, swallow and breathe. There is no targeted treatment for ALS, and the condition is fatal. Symptoms can begin at any time in adulthood, but most typically arise between ages 55 and 75. Approximately 10% of all cases of ALS are familial/hereditary. In very rare cases, genetic forms of ALS can affect children.

Symptoms

  • trouble moving and muscle weakness
  • weight loss
  • abnormal speech and swallowing
  • pneumonia
  • difficulty breathing

Cause

It’s unknown what causes sporadic (or non-familial) ALS, which is the predominant form. The only known risk factors for ALS overall are age and family history. Approximately 10% of all cases are familial. These cases are most commonly caused by pathogenic variants, also called mutations, in the C9ORF72 and SOD1 genes. 

How ALS is diagnosed 

Diagnosis typically involves a thorough physical exam as well as a review of family history. There is no single test that can definitively diagnose ALS, though a number of muscle and imaging tests can be used to help rule out other diseases. These may include electromyography (EMG), nerve conduction study (NCS), magnetic resonance imaging (MRI), blood and urine tests and muscle biopsy. The diagnosis of ALS is typically made by a physician, who confirms the presence of symptoms associated with motor neuron diseases like ALS and rules out other potential causes of the associated signs and symptoms.

Existing treatment

There is no targeted treatment available for ALS. There are two approaches to treatment: disease-modifying treatment (which aims to slow the progression), and symptomatic therapy (which helps manage symptoms). The FDA has approved two disease-modifying treatments, which may slightly prolong survival. Symptomatic therapy may include physical and occupational therapy, speech therapy and various drugs. 

Frequency

ALS develops in 1.5 to 3 per 100,000 people every year in North American and European populations, and there are approximately 5,000 new cases diagnosed each year in the United States. ALS tends to affect more men (about 60% of cases) than women. Little is known about the prevalence of ALS outside North America and Europe. 

Related conditions

ALS is part of a group of neurodegenerative conditions called motor neuron diseases. Motor neuron diseases are caused by the progressive destruction of motor neuron cells, the cells that control the muscles involved in activities like walking, breathing, speaking and swallowing. Other motor neuron diseases include spinal muscular atrophy (SMA), hereditary spastic paraplegias (HSP) and Kennedy disease.

Community resources

The latest in our research

We are jumpstarting our ALS program to accelerate research on the disorder to ultimately improve treatment options. We welcome all patients and caregivers interested in participating and spreading the word to the ALS community.

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amyotrophic lateral sclerosis

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