What is ALS | hrs-to-defeat-als

Delaney Strong

WHAT IS ALS?

HOW IS ALS DIAGNOSED?

WHAT TREATMENTS ARE AVAILABLE?

Amyotrophic Lateral Sclerosis (ALS) is a devastating progressive neuromuscular disease, also known as Lou Gehrig'sDisease. ALS occurs throughout the world with no racial, ethnic, or socioeconomic boundaries, typically striking men and women between the ages of 35 and 70. Over 5,000 Americans are diagnosed with ALS each year. Between 5 and 10% of those cases are familial, occurring more than once within a single family line.

ALS is characterized by a degeneration of motor cells in the brain and spinal cord, leading to muscle weakness and, as the disease progresses, severe impairment of mobility, speech, swallowing, and respiratory function. A smaller percentage of people with ALS may also experience cognitive changes, a kind of dementia resulting from degeneration in parts of the brain which control thinking, behavior, and language skills. This co-occuring disease is called "Frontotemporal Lobar Degeneration," or FTLD. In the advanced stages of ALS, care can cost up to $250,000 a year. Average life expectancy, without invasive mechanical ventilation, is approximately two to five years from diagnosis. But with advances in research and improved medical care, many are living longer, more productive lives. Half of all affected live at least three years after diagnosis; 20% live five years or more and up to 10% will live more than ten years.

WHO GETS ALS?

ALS is an “equal opportunity” disease, affecting both men and women of all races, religions and ethnicities. Worldwide, there are 1 to 2 cases of ALS per 100,000 population. While the most cases occur in people between the ages of 40 and 70, the disease can occur in people in the 20’s, all the way up to their 90’s.

There is no single test to diagnose ALS. Instead, it must be diagnosed by ruling out all other possible causes of symptoms. For this reason, diagnosis can take months, or in some cases, years.

A positive diagnosis should come from a neurologist specializing in motor neuron diseases. It is confirmed by a positive EMG, and negative results from other tests, including blood work, MRIs, and CAT scans. Patients should also exhibit a history of progression of symptoms.

There is only one medication approved by the FDA for treatment of ALS. Riluzole, manufactured under the brand name Rilutek, is thought to extend life in ALS patients by about three months. ALS care is predominantly palliative, meaning that we strive to help patients manage their symptoms.

TECHNOLOGY AND SCIENCE IMPROVES

WHAT ARE THE SYMPTOMS?

ALS presents itself differently in every patient. Common early symptoms can include a weakness in the arms, hands, legs or feet that worsens over time. In some cases, muscle weakness can start in the speaking, chewing and swallowing muscles otherwise known as the "bulbar" muscles. People who have ALS with an onset of symptoms in the bulbar muscles usually report a change in voice quality and tone, and/or difficulty with chewing and swallowing food.

As it runs it course, ALS will eventually affect muscles in the arms and hands, legs and feet, chest, abdomen, back, neck, throat and mouth, tongue, face, and diaphragm.

ALS does not affect internal organs like the heart, liver, kidneys or lungs, sexual function, or the senses.

Physicians have limited choices for treating ALS, and the options that do exist have come into use within the last 10 years. Studies suggest that patients' length of survival and quality of life are enhanced by night-time breathing assistance early in the course of the disease and by aggressive application of alternate feeding options to assure good nutrition once swallowing becomes difficult. At this time, Riluzole® is the only drug that has been approved by the FDA for treatment of ALS. In clinical trials, Riluzole® has shown a slight benefit in modestly increasing survival time.

Stem cell and gene therapy are promising areas of research. In a variety of studies, ALS mouse models are being used to develop treatments that may someday lead to similar human clinical trials. Gene therapy is one field of research where The ALS Association is concentrating support for more study.

More significant advances of research into ALS has occurred in the last decade than all of the time since Charcot identified the disease. Advances in technology and the genetic revolution are aiding researchers in unlocking the ALS mystery. As more scientists focus on this perplexing disease, the outlook for new understanding brightens each day.