What is ALS?

AMYOTROPHIC LATERAL SCLEROSIS (ALS), often referred to as "Lou Gehrig's disease" or "Charcot's syndrome," is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. ALS causes the progressive degeneration of the motor neurons (which stretch from the brain to the spinal cord and then from spinal cord to the body’s muscles) and eventually leads to their death. When the motor neurons die, the brain cannot control muscle movement and paralysis ensues.

Early symptoms of ALS can be subtle: twitching, cramping, and clumsiness. Over time, obvious signs of muscle weakness develops, especially in the arms and legs. Patients experience difficulty speaking, swallowing, and finally breathing. When muscles no longer receive messages from motor neurons, the muscles begin to atrophy (become smaller). Patients in the late stages of the disease become progressively paralyzed, but for the majority of people, their minds remain unaffected.

This disease, maybe more than others, has a tremendous effect on families both physically and emotionally. As small tasks become insurmountable the dedication of caretakers becomes increasingly more important.

Forms of ALS

There are three classifications of ALS:

  1. Sporadic - the most common form of ALS in the United States, accounting for 90% to 95% of all reported cases.
  2. Familial - occurring more than once in a family lineage, this form accounts for only 5% to 10% of all reported cases in the US. In these families, there is a 50% chance each offspring will inherit the abnormal gene and may develop the disease. In only two out of 10 of these patients has the gene mutation been identified. Because of this mutation, a protein called superoxide dismutase 1 (SOD1), which normally detoxifies nerve cells, is believed to be defective. The SOD1 mutation, however, accounts for only 1% or 2% percent of all ALS cases.
  3. Guamanian - an extremely high incidence of ALS was observed in Guam and the Trust Territories of the Pacific in the 1950's.

Diagnosing ALS

To date, there is no one definitive test or procedure to establish the diagnosis of ALS. A diagnosis can be established only through a clinical examination and series of diagnostic tests, which rule out other diseases that mimic ALS. A comprehensive diagnostic workup includes most, if not all, of the following procedures:

  • complete neurological examination
  • electrodiagnostic tests [including electomyography (EMG) and nerve conduction velocity (NCV)]
  • blood and urine studies including high resolution serum protein electrophoresis, thyroid and parathyroid hormone levels and 24 hour urine collection for heavy metals
  • spinal tap
  • body images, including x-rays, magnetic resonance imaging (MRI), and myelograms
  • muscle and/or nerve biopsy

Testing is conducted at the discretion of the physician, based on results of other diagnostic tests and the physical examination. Several diseases have many of the same symptoms as ALS, and most of these conditions are treatable. It is for this reason that the ALS Association recommends that a person diagnosed with ALS seek a second opinion from an ALS expert — someone who diagnoses and treats many ALS patients and has training in this medical specialty. The ALS Association maintains a list of recognized experts in the field of ALS. Please see http://www.alsa.org/

Symptoms of the Disease

The initial symptoms of ALS may be so subtle that they are overlooked. The course of the disease may include the following:

  • twitching (fasciculation) and cramping of muscles, especially those in the hands and feet
  • muscle weakness in one or more of the following: hands, arms, legs or the muscles controlling speech, swallowing or breathing
  • impairment of the use of the arms and legs
  • "thick speech" and difficulty in projecting the voice
  • in more advanced stages, shortness of breath, difficulty in breathing and swallowing

The initial symptoms of ALS and the rate of progression can be quite variable from patient to patient. Although the average survival time with ALS is three years, some people live five, 10, or more years. Not all people with ALS experience the same symptoms or the same sequences or patterns of progression. But, progressive muscle weakness and paralysis are universally experienced. As the weakness continues to spread, the disease eventually affects walking, speech, swallowing, and breathing. When the breathing muscles become affected, ultimately, the patient will need permanent respiratory support in order to survive.

Since ALS attacks only motor neurons, the sense of sight, touch, hearing, taste and smell are not affected. For many people, muscles of the eyes and bladder are generally not affected. For the vast majority of people, their mind and thoughts are not impaired and remain sharp despite the progressive degenerating condition of the body.

Who Gets ALS

  • Over 5,600 people in the U.S. are diagnosed with ALS each year. (That's 15 new cases a day.)
  • More people die every year of ALS than of multiple sclerosis or Huntington’s disease.
  • It is estimated that as many as 30,000 Americans have the disease at any given time.
  • Most people who develop ALS are between the ages of 40 and 70, with an average age of 55 at the time of diagnosis. However, cases of the disease do occur in persons in their twenties and thirties. Generally, ALS occurs in greater percentages as men and women grow older.
  • ALS is 20% more common in men than in women. However with increasing age, the incidence of ALS is more equal between men and women.
  • An elevated incidence of ALS has been observed in military veterans.
  • ALS occurs throughout the world with no racial, ethnic or socioeconomic boundaries and can strike anyone.

Treatment

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, Rilutek® (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 (Please see http://www.alsinfo.com/index.jsp). There are also device therapies that can help manage the symptoms of ALS and help people maintain as much independence as possible. It is important to remember that ALS is a variable disease; no two people will have the same experience. There are rare, medically documented cases of people in whom ALS stops progressing or progresses at a very slow rate.

Costs for medical care, equipment, and home health caregiving can become significant later in the disease. It is important to be knowledgeable about your health plan coverage and other programs for which your may be eligible, including SSA, Medicare, and Veteran Affairs benefits.

Treatment also focuses on helping the patient cope with symptoms and avoid complications for as long as possible. Physical, occupational and speech therapy may be helpful in maintaining strength for varying lengths of time. In some cases drug therapy has proven helpful to temporarily relieve symptoms to make the patients more comfortable.

ALS' Legacy of Loss

"...I may have had a tough break, but I have an awful lot to live for." Those are the words spoken by New York Yankees superstar Lou Gehrig on July 4, 1939, when he announced his retirement from the sport of baseball to 62,000 deeply moved fans.

The first baseman for the New York Yankees had been one of the most prolific baseball players of his time, earning MVP honors on two occasions. The Iron Horse, as he was known, amassed records that remain benchmarks in today’s power sport of baseball. Amyotrophic Lateral Sclerosis ended his career, which spanned 13 years and 2,130 consecutive games, and ended his life two years later at age 38. (LouGehrig.com)

ALS has cut short the lives of other such notable and courageous individuals as Hall of Fame pitcher Jim "Catfish" Hunter, Senator Jacob Javits, actors Michael Zaslow and David Niven, creator of Sesame Street Jon Stone, boxing champion Ezzard Charles, NBA Hall of Fame basketball player George Yardley, pro football player Glenn Montgomery, golfer Jeff Julian, golf caddie Bruce Edwards, British soccer player Jimmy Johnstone, musician Lead Belly (Huddie Ledbetter), photographer Eddie Adams, entertainer Dennis Day, jazz musician Charles Mingus, composer Dimitri Shostakovich, and U.S. Army General Maxwell Taylor.

ALS has cut short the lives of other such notable and courageous individuals as Hall of Fame pitcher Jim "Catfish" Hunter, US Senator Jacob Javits, jazz artist Charles Mingus, and actor David Niven.