Amyotrophic Lateral Sclerosis (ALS): Causes and Symptoms

WHO GETS ALS? An estimated 5,000 people are newly diagnosed with ALS each year in the United States. Even though it’s not clear what causes ALS, certain people may be more likely to get it.

A small proportion of the people who get ALS — about 1 in 10 — were born with a gene mutation that caused the disease. Their children run a 50-50 chance of having this mutation, too. In most

cases, just inheriting the gene from one parent is enough to ensure that a person will develop what’s called familial, or genetic, ALS. About 25 to 40 percent of people with familial ALS

have defects in a gene called C9orf72. Another 12 to 20 percent of familial cases have ALS due to a defect in a gene called SOD1. People who have C9orf72, the most common inherited gene

mutation for ALS, may be at higher risk for a form of dementia called frontotemporal dementia (FTD). The same gene mutation in a family can cause ALS, FTD or both. “You can have a sister

with ALS and a brother with FTD,” Rothstein says. “We don’t think of ALS as a dementia disease, but sometimes you can have a very severe dementia with it, which is usually because of that

gene mutation.” The vast majority of people with ALS — 9 in 10 — did not inherit a gene from a family member and have no family history of the disease. They have what’s called sporadic ALS.

Age and, to a certain degree, sex are the only known risk factors for sporadic ALS. The age at which the disease is most often diagnosed is between the 50s and mid-70s. Familial ALS may

develop much earlier, around age 45 or younger. Before age 65, ALS is a little more common in men than in women. After age 70, rates are the same for both sexes. Aside from these known risk

factors, smokers may be more likely to develop ALS, as are people who’ve been exposed to environmental toxins, such as lead or certain chemicals, research suggests. For some reason, perhaps

due to toxic exposures, people who have served in the military seem to be at higher risk. IS THERE TREATMENT FOR ALS? MEDICATIONS FOR ALS Available treatments for ALS do not reverse damage

or provide a cure. They may slow disease progression, extend survival and improve quality of life. * QALSODY (TOFERSEN): given by spinal injection in the 1 to 2 percent of ALS patients with

a mutation in the SOD1 gene. It may decrease neuron damage. * RADICAVA (EDARAVONE): an antioxidant given orally or intravenously that may slow functional decline. * RILUTEK (RILUZOLE): an

oral medication that may reduce damage to motor neurons by reducing levels of glutamate, a chemical messenger between nerve cells. In clinical trials, riluzole prolonged survival in people

with ALS by a few months. It’s available in thickened liquid form (Tiglutik) or as a tablet that melts on the tongue (Exservan). * NUEDEXTA: an oral medication that treats involuntary

outbursts of crying or laughing in people with ALS and other neurological disorders. _Sources: National Institute of Neurological Disorders and Stroke and the ALS Association_ There’s no

cure for ALS. People who have it will eventually die from the condition. Three medications approved by the U.S. Food and Drug Administration may slow the progression of the disease.

Additional medications are used to treat symptoms and prevent complications to make patients comfortable and live as well as possible with ALS. Kuldip Dave of the ALS Foundation recommends

patients receive treatment at a multidisciplinary clinic “to interact with a team of health care professionals, not only a neurologist or ALS specialist, but also a physical therapist,

pulmonologist, respiratory therapist and nurse coordinator.” Speech therapists, dietitians and social workers may also be part of the team. “Multiple publications show that people with ALS

[who attend] a multidisciplinary clinic have at least a 10- to 18-month increased survival,” he says. WHAT CAN YOU EXPECT WITH ALS? ALS eventually weakens the muscles used for mobility,

breathing, speaking and swallowing. You may need technology, devices and eventually professional care to help with each of these. For some people, ALS can progress to this point very

quickly, and for others it can take years. Doctors typically won’t be able to let you know how fast the disease will progress. No matter how quickly or slowly, ALS does progress over time.

Eventually, people with this condition need more care than a spouse or adult child alone can provide. “Home caregivers are very common for ALS patients somewhere in the course of the

disease, and, of course, at the very end, there can be hospice,” Rothstein says. A variety of assistive devices are available to help people with ALS move around their homes, speak, breathe

and carry out other tasks of daily living as the disease progresses. Assistive technology is also an area of active research in ALS to bring more effective tools to patients.