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What is ALS?

stem_cell004Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed.   ALS occurs rarely and spontaneously.

The disease usually strikes people between the ages of 40 and 70, and as many as 30,000 Americans have ALS at any given time.

Causes of ALS

ALS is a diverse and mystifying disease. In more than nine out of every ten cases diagnosed, there’s no clear identifying cause – most patients are without the affected family members that signal an obvious genetic history.

Also, nothing about the way patients live their lives gives clues to what causes ALS. Nothing, so far, in patients’ diets, where they’ve lived, how they’ve lived or what they’ve done with their lives seems to explain why they’ve developed this late onset, fully developed, progressive disease.

In about 5 percent of cases, a clear genetic history exists. The disease is classed as autosomal dominant in these patients; that is, that almost half of all family members show an undeniable history of ALS.

Still, for the majority of ALS cases – called sporadic ALS – the cause is unknown. Something genetic is almost certainly at work, if only for a predisposition to the disease. And some subtle environmental element is also suspected – a toxin, perhaps.

When a patient gets an ALS diagnosis, the disease has been underway for some time. Once ALS begins, it spreads throughout the central nervous system, both brain and spinal cord.  ALS is basically thought to be an illness of motor neurons. But it’s also one of astrocytes, the common nervous system cells that support motor neurons. Throughout the disease, a number of cell processes go awry, contributing to and maintaining ALS’s progress. So far, no single one of them appears far more important than another.

SYMPTOMS AND DIAGNOSIS

The following are the most common symptoms of ALS. However, people may experience symptoms differently.

  • Twitching and cramping of muscles, especially those in the hands and feet
  • Loss of motor control in the hands and arms
  • Impaired use of the arms and legs
  • Weakness and fatigue
  • Tripping and falling
  • Dropping things
  • Uncontrollable periods of laughing or crying
  • Slurred or thick speech and difficulty in projecting the voice

The symptoms of ALS may resemble other conditions or medical problems. If you think you are experiencing ALS symptoms, consult a neurologist with a neuromuscular specialty for diagnosis.

ALS is diagnosed using a variety of tests and examinations, including laboratory tests, muscle and nerve biopsy, spinal tap, X-rays, MRI’s and electrodiagnostic evaluation of axon function. However, the diagnosis of ALS is often a “rule-out” procedure. This means ALS is diagnosed after all other possibilities have been ruled out by specific tests. 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 nighttime 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. More significant advances of research into ALS have occurred in the last decade. Advances in technology and the genetic revolution are aiding researchers in unlocking the mystery surrounding ALS, eventually leading to a world without ALS.

ALS Treatments

lab shotCurrently, amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, has no cure. At this time, Riluzole® (Rilutek) 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.

Patients suffering from the disease can maximize their abilities and be made more comfortable with the following treatment or therapeutic options:

  • Medications to relieve painful muscle cramps, excess salivation and other symptoms
  • Heat or whirlpool therapy to relieve muscle cramping
  • Exercise, though recommended in moderation, to help maintain muscle strength and function
  • Physical therapy to maintain mobility and ease the discomfort of muscle stiffness, cramps and fluid retention
  • Nutritional counseling to promote optimal calories and dietary balance and to offer diet-based help when swallowing becomes difficult
  • Speech therapy to maintain as many verbal communication skills as possible and communication training to offer non-verbal techniques
  • Devices such as splints, corrective braces, grab bars, reach-extenders, etc. to help with daily activities such as dressing, eating, using the toilet and bathing
  • Special equipment such as wheelchairs, electric beds or mattresses to maximize functional independence

ALS Resources

Listed below is a comprehensive list of ALS organizations that provide valuable information on ALS research, clinical trials and patient support.

ALS Clinical Trials

Information on ALS Reserach

neuron_001Patient & Family Support

 

PALS Community

 

National Amyotrophic Lateral Sclerosis Registry