Frequently asked questions about Lou Gehrig's disease and a guide to research
- What is ALS and how does it affect the body?
- How many people have ALS?
- How is ALS diagnosed? What are the early symptoms?
- What is the average life expectancy?
- Is there a cure? What are the existing treatments?
- What devices and technologies are available to help people with ALS?
- Who else is doing ALS research?
- Why is ALS considered an "orphan disease"? What are others? What are the added obstacles to finding cures for these diseases?
What is ALS and how does it affect the body?
A motor neuron at a magnification of 250x
(© Visuals Unlimited/Corbis)
ALS -- amyotrophic lateral sclerosis -- is a progressive disease that primarily affects motor neurons, the nerve cells that connect the brain to muscles throughout the body. For reasons that remain unknown, the motor neurons of people with ALS degenerate and eventually die, causing the individual to lose the ability to control voluntary muscles. With some, the condition first weakens and disables muscles in the arms or legs; with others, symptoms first appear in the throat area. In most cases, ALS develops into complete paralysis, including the loss of speech. Because ALS primarily affects motor neurons, most of the body's involuntary functions, such as the heart, the digestive system and the senses, are generally unaffected. The brain's function also remains largely unchanged, though patients may experience mild behavioral effects, such as changes in their reasoning and social interaction skills. ALS ultimately affects an individual's ability to breathe and swallow.
ALS typically develops in individuals aged 40 to 70, but it can affect individuals in their 20s or 30s. About 5 to 10 percent of cases, known as familial ALS (FALS), are the result of an inherited genetic defect. But in more than 90 percent of ALS patients -- including Stephen Heywood, profiled in the film So Much So Fast -- the disease develops seemingly at random, with no apparent risk factors. This form is known as sporadic ALS (SALS).
In North America, ALS is commonly referred to as Lou Gehrig's Disease, after the famous New York Yankees baseball player who left the team after being diagnosed with ALS in 1939. He succumbed two years later.
How many people have ALS?
It is estimated that 30,000 people in the U.S. have ALS at any given time, with approximately 5,600 new cases diagnosed annually. More than 5,000 people die from the disease each year.
How is ALS diagnosed? What are the early symptoms?
There is no specific test or procedure to diagnose ALS. Rather, doctors generally reach a diagnosis by using a battery of tests to eliminate other possibilities. These tests include: blood and urine sampling; spinal taps; neurological examinations; muscle and/or nerve biopsies; imaging technologies, including MRIs, x-rays and myelograms (an x-ray examination of the spine); and electrodiagnostic tests that measure muscles' and nerves' response to electrical currents.
Doctors will also take a family history in order to help determine if an individual has familial ALS. There is a genetic test to look for the gene mutation linked to FALS; however, only 20 percent of individuals with FALS actually display the mutation, so the genetic test is not in itself conclusive.
The most common early symptom of ALS is muscle weakness in the arms, legs, or throat muscles. Individuals may experience difficulty speaking clearly or swallowing. They may be unable to complete tasks that require fine motor skills or may find themselves tripping or abnormally clumsy. Some individuals also experience muscle fatigue, cramps or twitching. Among older ALS patients, the first signs of the disease are often mistaken for the common effects of aging.
What is the average life expectancy?
ALS is a fatal disease: Most ALS patients die within two to five years of diagnosis. Common causes of death are respiratory failure and/or cardiac problems related to insufficient oxygen. Patients may also suffer respiratory infections, such as pneumonia.
Up to 10 percent of ALS patients live for 10 years or more after diagnosis. Some of these are patients who have opted to use a ventilator to assist breathing. Physicist Stephen Hawking has lived more than 40 years with the disease, though he does not use a respirator.
Is there a cure? What are the existing treatments?
There is currently no cure for ALS and only one FDA-approved drug treatment. The approved drug -- riluzole, approved in 1995 and sold under the brand name Rilutek -- is a twice-a-day pill that targets glutamate, an amino acid made in each cell in the body that carries signals along motor neurons. Though the exact cause of ALS is still unknown, some scientists theorize that people who develop ALS produce an overabundance of glutamate that proves toxic to the motor neurons. Researchers believe that Rilutek may help protect neurons from glutamate, but the drug's exact effects are not fully understood. In the first year of clinical trials, Rilutek appeared to impede the disease's progress and prolong life by an average of three months. However, by the end of the trial's five-year run, there was no significant difference in life extension between patients who received Rilutek and those who received a placebo.
Drug development and clinical trials seeking more and better treatments for ALS are ongoing. Organizations like the ALS Therapy Development Institute, featured in So Much So Fast, are applying new models to the process of drug development in the hopes of speeding up research that could lead to identifying new treatment options for ALS.
What devices and technologies are available to help people with ALS?
In the beginning stages of ALS, patients may use walkers or canes before progressing to a wheelchair. There are power wheelchairs available that can be controlled by the head or chin or by a "sip-and-puff" mouth device. Transfer boards and patient lifts are also available to help maneuver the patient's body. And there are a multitude of devices -- from elastic shoelaces to silverware aids -- available to help with daily tasks.
When swallowing becomes too difficult, patients may opt to have a feeding tube placed directly into the stomach. Through the tube, they are given water and special liquid supplement formulas designed to meet all nutritional needs. After the feeding tube is inserted, patients can still eat orally, so long as they can safely chew and swallow. Some individuals, including Stephen Heywood, make this decision proactively, as weight loss can exacerbate other effects of the disease.
Ventilators are typically used by ALS patients having difficulty breathing. There are several kinds of non-invasive ventilators, such as small devices that fit over the nose and mouth. Patients may also opt for a tracheostomy, a surgical procedure in which a tube is placed into the throat. A mechanical ventilator can be attached to the tube, and the tube can also be used to suction out secretions. Because it is an invasive procedure, some patients opt not to pursue a tracheostomy.
There are many technologies available for patients having problems communicating, from software and adaptations for personal computers (for example, switches or mouth sticks to aid in typing) to dedicated communication devices, which operate through typing or visual scanning.
In the film So Much So Fast, Stephen Heywood is seen communicating through a computer program called EZ Keys, which scans through letters and words. By clicking, he can build phrases; a voice synthesizer can then turn the words into speech. Stephen used the device for everything from instant-messaging and e-mail to telling his son Alex when it was time for bed.
Stephen also took part in a clinical trial for a new technology called BrainGate, developed by Cyberkinetics, in which a sensor is placed on the brain's motor cortex (the part that controls movement). The sensor records the brain's electrical signals and then transmits them to a device outside the body, where they are interpreted by special software and fed into a computer. The goal of the study that Steven took part in is to evaluate the quality and usefulness of the participant's ability to move a cursor on the computer screen using their thoughts.
Who else is doing ALS research?
While the film So Much So Fast profiles the ALS Therapy Development Institute, founded by Jamie Heywood, there are a number of other research and advocacy organizations:
- The Muscular Dystrophy Association has a division devoted to ALS research and its Web site has a list of clinical trials currently in production.
- Though the International Alliance of ALS/MND Associations does not conduct research itself, it maintains a list of international organizations who do.
- In addition to patient and caregiver education, the ALSA Web site is a good place to find the latest research news.
- Project ALS was founded by theater producer Jenifer Estess, her friends and family, after she was diagnosed with ALS at age 35. Eighty percent of the funds raised by Project ALS are directed to research and education, with four main target areas: genetics, drug discovery, stem cell research and disease pathways (the study of how ALS progresses).
- The Day Laboratory for Neuromuscular Research, run by Dr. Robert Brown, studies the underlying causes and possible treatments for ALS. Scientists there are exploring approaches including gene therapy and stem cell therapy, as well as testing existing drugs for efficacy and looking for biomarkers to help understand how the disease progresses.
- Researchers at The Robert Packard Center for ALS Research at Johns Hopkins also focus on understanding ALS's underlying causes and developing therapies. Their current approaches include isolating, identifying and cloning genes and mutations that may control the disease's progression.
- The ALS Center at the University of California, San Francisco is involved in several drug trials and is also working to help establish a national gene bank with blood drawn from ALS patients. Scientists there are also studying possible environmental and genetic risk factors.
Why is ALS considered an "orphan disease"? What are others? What are the added obstacles to finding cures for these diseases?
Orphan diseases, also called rare diseases or rare disorders, are conditions that affect fewer than 200,000 people in the U.S. There are approximately 6,000 orphan diseases -- some of the better known ones are cystic fibrosis, Huntington's Disease, and Tourette's Syndrome -- and more are discovered all the time.
Although an estimated 25 million Americans have an orphan disease, the drug discovery process is a challenge: The numbers are so few per disease that pharmaceutical companies are unlikely to make a profit after investing in costly research and development. In 1983, Congress passed the Orphan Drug Act, offering tax credits, exclusive marketing rights and other financial incentives to encourage research. Though the act has helped -- in February 2007, the Pharmaceutical Research and Manufacturers of America (PhRMA), the Genetic Alliance and the National Organization for Rare Disorders released a report listing 303 drugs for orphan diseases in clinical trials or awaiting FDA approval -- some private foundations, such as the ALS TDI, have stepped in to aggressively speed up the process.