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Amyotrophic Lateral Sclerosis (ALS): Facts & Symptoms of Lou Gehrig's Disease

neurons
Mouse neurons implanted into a rat brain can live twice as long as the mice from which they were taken, new research suggests.
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Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease or motor neuron disease, is a progressive and fatal neurological disease that causes the neurons that control voluntary muscles (motor neurons) to degenerate.

The term "Lou Gehrig's disease" is named for the famed American baseball player who developed ALS in 1939 at age 36. In the United States, as many as 20,000 to 30,000 people have the disease, and about 5,000 people are diagnosed with it each year. ALS commonly strikes people 40 to 60 years old. It affects people of all races and ethnicities, though more often men than women.

ALS symptoms

The first symptoms include muscle twitches, cramps, tight and stiff muscles (spasticity), weakness of an arm or leg, slurred and nasal speech, and difficulty chewing or swallowing.

When ALS starts in the arms or legs, it is called "limb onset" ALS. Someone with the disease might have trouble with writing or buttoning a shirt, or feel like they are tripping or stumbling while walking or running. In patients where speech is affected first, the disease is called "bulbar onset" ALS.

As the disease progresses, weakness or atrophy spread throughout the body. Patients may have trouble moving, swallowing and speaking. An ALS diagnosis requires signs of both upper and lower motor neuron damage. Signs of the former include muscle tightness or stiffness and abnormal reflexes; signs of the latter include muscle weakness, cramps, twitches and atrophy. [Related: Nervous System: Facts, Functions & Diseases]

Eventually, individuals with ALS lose the ability to stand or walk, use their hands and arms, or eat normally. In late stages of the disease, weakness of the respiratory muscles makes breathing difficult or impossible without a ventilator. Cognitive abilities remain mostly intact, though some individuals may experience problems with memory or decision-making, or show signs of dementia.

Life expectancy

Most people with ALS die of respiratory failure within 3 to 5 years of the onset of symptoms, though about 10 percent of sufferers live for 10 or more years. Theoretical physicist and cosmologist Stephen Hawking, who was diagnosed with a motor neuron disease related to ALS, has survived 50 years since his diagnosis.

 

Causes of ALS

The cause of ALS is unknown, though some cases where there's a family history of the disease are associated with mutations in the gene for an enzyme called SOD1. It's not clear how the mutations cause motor neuron degeneration, but studies suggest the SOD1 protein can become toxic.

Scientists have identified more than a dozen other genetic mutations that may be linked to ALS. These mutations cause changes in the processing of RNA molecules (which may regulate genes), defects in the recycling of proteins, defects in motor neuron shape and structure, or susceptibility to environmental toxins.

Other research suggests ALS may share similarities to frontotemporal dementia (FTD), a degenerative disease of the brain's frontal lobe. A defect in the C9orf72 gene is found in a substantial number of ALS patients as well as some FTD patients.

Treatment for ALS

Currently, ALS does not have a cure, but treatments exist to relieve symptoms and improve patients' quality of life.

The first drug for treating the disease, Riluzole, was approved by the Food and Drug Administration (FDA) in 1995. Riluzole is thought to decrease damage to the motor neurons by minimizing the release of the chemical signal glutamate. In clinical trials, the drug prolonged the survival of ALS patients' (particularly ones who had difficulty swallowing) by several months. It can extend also the time before a patient must go on a ventilator.

Doctors can prescribe medications for reducing fatigue, muscle cramps, muscle spasticity, and excessive saliva or phlegm, as well as pain, depression, sleeping problems or constipation.

Physical exercise or therapy can give patients independence. For example, walking, swimming and stationary biking can strengthen muscles not affected by the disease, leading to improved heart health and less fatigue and depression. Special equipment — such as ramps, braces, walkers and wheelchairs — can give patients mobility without exhausting them.

Speech therapists and nutritionists can help ALS patients who have trouble speaking or swallowing. As the disease advances, patients can learn to answer yes-or-no questions with their eyes or using computer-based systems.

When breathing becomes difficult, individuals with ALS can use ventilators that artificially inflate their lungs during the nighttime, or eventually, fulltime. Respirators that connect directly to the windpipe may ultimately be used.

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Tanya Lewis, LiveScience Staff Writer

Tanya Lewis

Tanya joined the LiveScience staff in 2013. She received a graduate certificate in science communication from the University of California, Santa Cruz in 2012. Before that, she earned a bachelor's degree in biomedical engineering from Brown University. She has interned previously at Wired.com, Science News, Stanford Medical School, and the radio program Big Picture Science. To find out what her latest project is, you can follow Tanya on .
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