What you hear when you ask, "What is ALS?" depends on who is answering. A widow or widower may use words like heartless to describe it and call it a homewrecker.
Orphans, brothers and sisters say it is a murderer. Parents, who never intended or wanted to outlive their child, call it evil. The worst kind of killer.
Friends and extended family members, newly cast as caregivers, call it cruel. For them it's a tragedy, and undeserved calamity: A very bad curse that's settled without mercy on a very good person.
French neurologist Jean-Martin Charcot, who first found ALS in 1869, might have called it a breakthrough.
The man on the street, will pause, squint and usually guess correctly: "Lou Gehrig's disease?"
Firmly in the grip of ALS, the afflicted may call it every black name a fearful imagination can conjure - only to settle in the end for cowardly thief, robber or mocker for the insidious way it steals every ounce of mobility and autonomy only to leave the brain intact, vital and stymied.
Doctors use words like stealthy and elusive. But with colleagues they are more direct: death sentence.
A favorite of sympathetic but unaffected onlookers is tragic.
Researchers and health educators say ALS is Amyotrophic Lateral Sclerosis and go on to explain that it is a progressive neuromuscular disease that is characterized by a degeneration of the motor neurons; the cells in the brain and spinal cord which control muscles.
As the motor neurons die, the muscles weaken, affecting the ability to move, speak, swallow and breathe. Through it all, the mind remains fully aware. As of today, there is no known cause or cure for ALS, although there are many promising research programs.
ALS strikes both men and women, generally between the ages of 40 and 75, although many patients are young adults in their 20s and 30s.
In the U.S. there are currently more than 30,000 people living with ALS and more than 5,000 people in the U.S. are newly diagnosed with ALS each year.
$2 billion is the estimated cost to develop a drug to slow or stop the progression of ALS. To date, only one drug (Riluzole) is approved by the U.S. Food and Drug Administration for ALS. (Riluzole extends survival by a few months.)
It is estimated that Michigan has more than 1,000 people with ALS (PALS), and 200 who are newly diagnosed on an annual basis.
ALS occurs throughout the world with no racial, ethnic or socioeconomic boundaries.
50% of patients with ALS live 3 to 5 years. 20% live 5 to 10 years, and 10% survive 10 years or more. The average life expectancy with ALS is 2-5 years.
Sporadic ALS is the most common form and accounts for 90-95% of all cases of ALS. It occurs randomly throughout the population.
"Familial" ALS suggests the disease is inherited. Only 5% - 10% of all PALS appear to have some form of inherited ALS.
The various muscle groups affected by ALS and the order in which they are affected vary by individual. About 25% of those eventually diagnosed with ALS have bulbar onset which strikes the brainstem’s corticobulbar area. This section controls muscles in the face, neck and head. Bulbar onset usually affects voice and swallowing first.
The majority of ALS patients have limb onset. For these individuals, early symptoms may include dropping things, tripping, fatigue of the arms and legs, slurred speech and muscle cramps and twitches.
At the onset of ALS the symptoms may be so slight that they are frequently overlooked. As the condition progresses, the course of the disease may include the following:
- Muscle weakness in one or more of the following: hands, arms, legs or the muscles affecting speech, swallowing or breathing
- Twitching (fasciculation) and cramping of muscles, especially those in the hands and feet
- Impairment of the use of the arms and legs
- "Thick speech" and difficulty in projecting the voice
- In more advanced stages, shortness of breath and difficulty in breathing and swallowing
The arrival of ALS is different for every person. One may experience tripping over carpet edges, another may have trouble lifting and a third person's early symptom may be slurred speech. In a small number of people, ALS is known to remit or halt its progression, though there is no scientific understanding as to how and why this happens. Symptoms can begin in the muscles of speech, swallowing or in the hands, arms, legs or feet. 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.
Muscle weakness is a hallmark initial sign in ALS, occurring in approximately 60% of patients. Early symptoms vary with each individual, but usually include tripping, dropping things, abnormal fatigue of the arms and/or legs, slurred speech, muscle cramps and twitches and/or uncontrollable periods of laughing or crying.
The hands and feet may be affected first, causing difficulty in lifting, walking or using the hands for the activities of daily living such as dressing, washing and buttoning clothes.
As the weakening and paralysis continue to spread to the muscles of the trunk of the body, the disease eventually affects speech, swallowing, chewing and breathing. When the breathing muscles become affected, the patient will ultimately require permanent ventilator 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.
According to the ALS CARE Database, 60% of the people with ALS in the Database are men, and 93% of patients in the Database are Caucasian. 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 though, 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.
There are several research studies past and present investigating possible risk factors that may be associated with ALS. More work is needed to conclusively determine what genetics and/or environmental factors may contribute to the development of ALS.
ALS is a very difficult disease to diagnose, and there is no single definitive test or procedure to ultimately establish the diagnosis of the disease. Diagnosis is usually the result of clinical examination and a series of diagnostic tests, often ruling out other diseases that mimic ALS.
There are actually three levels of diagnosis for ALS (Clinically Possible ALS; Clinically Probable ALS; and Clinically Definite ALS). The designations are important because they are used to determine eligibility for participation in clinics and clinical trials. A comprehensive diagnostic workup includes most, if not all, of the following procedures.
- 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
- X-rays, including magnetic resonance imaging (MRI)
- Myelogram of cervical spine
- Muscle and/or nerve biopsy
- Thorough neurological examination
These tests are done at the discretion of the physician, usually based on the results of other diagnostic tests and the physical examination. There are several diseases that have some 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 medial specialty. The ALS Association maintains a list of recognized experts in the field of ALS.
The presentation is an adaptation of information from webmi.alsa.org