At the onset of
- muscle weakness in one or more of the following: hands, arms, legs or the muscles of 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, difficulty in breathing and swallowing
The initial symptoms of
Muscle weakness is a hallmark initial sign in
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, ultimately, the patient will need permanent ventilatory support in order to survive.
Based on U.S. population studies, a little over 5,600 people in the U.S. are diagnosed with
Most people who develop
There are several research studies – past and present – investigating possible risk factors that may be associate with
Half of all people affected with
There is some evidence that people with
Three classifications of
- Sporadic - the most common form of
ALSin the United States - 90 to 95% of all cases.
- Familial - occurring more than once in a family lineage (genetic dominant inheritance) accounts for a very small number of cases in the United States - 5 to 10% of all cases.
- Guamanian - an extremely high incidence of
ALSwas observed in Guam and the Trust Territories of the Pacific in the 1950's.
The most common form of
- 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 (
- 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
Present treatment of
Symptomatic Treatment of
A presentation prepared for healthcare professionals, people living with
As the muscles that control swallowing become weaker, inhaling food and saliva can become a problem. Getting enough food or taking medicines may be difficult. A nutritionist may recommend certain types of food supplements that are easier to take, or medication to reduce the amount of saliva may be prescribed. If these approaches fail to help, some may choose to have a tube surgically inserted through the skin into the stomach to improve nutrition and help with medicines. This is also called percutaneous endoscopic gastrostomy, or
In some people with
Some patients may not have a problem with swallowing or breathing, but may notice their muscles becoming weaker over time. It may be difficult to get around without support, or do the things you were used to doing before
At the Maryland
- The onset of
ALSis insidious with muscle weakness or stiffness as early symptoms. Progression of weakness, wasting and paralysis of the muscles of the limbs and trunk as well as those that control vital functions such as speech, swallowing and later breathing generally follows. ALSis not contagious.
- It is estimated that
ALSis responsible for nearly two deaths per hundred thousand population annually. More people die every year of ALSthan of Huntington's disease or multiple sclerosis and it occurs two-thirds as frequently as multiple sclerosis.
- Approximately 5,600 people in the U.S. are diagnosed with
ALSeach year. The incidence of ALS(two per 100,000 people) is five times higher than Huntington's disease and about equal to multiple sclerosis. It is estimated that as many as 30,000 Americans may have the disease at any given time.
- Although the life expectancy of an
ALSpatient averages about two to five years from the time of diagnosis, this disease is variable and many people live with quality for five years and more. More than half of all patients live more than three years after diagnosis.
- About twenty percent of people with
ALSlive five years or more and up to ten percent will survive more than ten years and five percent will live 20 years. There are people in whom ALShas stopped progressing and a small number of people in whom the symptoms of ALSreversed. ALSoccurs throughout the world with no racial, ethnic or socioeconomic boundaries. ALScan strike anyone.
- Present treatment of
ALSincludes one drug, riluzole (Rilutek©) and is aimed at symptomatic relief, prevention of complications and maintenance of maximum optimal function and optimal quality of life. Most of this, in the later stages, requires substantial physical caregiving.
- In 1991, a team of ALSA-funded researchers linked familial
ALSto chromosome 21. In 1993 the research team identified a defective SOD1 gene on chromosome 21 as responsible for many cases of familial ALS. Further study indicated over 60 mutations (structural defects) in the SOD (superoxide dismutase) enzyme which alters the enzyme's ability to protect against free radical damage to motor neurons. These studies open possibilities for future therapies or strategies to effectively mediate both familial and sporadic ALS. But much more research on the SOD enzyme is needed. Also, researchers have not ruled out other gene involvement (on other chromosomes) in ALS.
- There can be significant costs for medical care, equipment and home health caregiving 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, Medical and Veteran Affairs benefits.
- Rilutek®, the first treatment to alter the course of
ALS, was approved by the FDA in late 1995. This antiglutamate drug was shown scientifically to prolong the life of persons with ALSby at least a few months. More recent studies suggest Rilutek® slows the progress of ALS, allowing the patient more time in the higher functioning states when their function is less affected by ALS. Rilutek® is manufactured by Aventis Pharmaceuticals. There is a patient Assistance Program that helps patients who qualify to receive the drug without charge. Many private health plans cover the cost of Rilutek®. Contact your local ALSA Chapter or the National Office for the Patient Assistance Program resource and more information about access to Rilutek®.
- Reports from three separate patient databases described long range experience with Rilutek®. All three reports suggest a trend of increasing survival with Rilutek® over time. More studies that are double blind and controlled are needed to confirm these database observations. The trend appears to indicate that longer periods of time than those used in the Rilutek® clinical trials may be needed to see the long-term survival advantage of the drug. An interesting observation was that despite the fact that the Irish government provides Rilutek® free of charge to people in Ireland with
ALS, only two-thirds of the patients registered in the Irelandnational ALSdatabase reported taking Rilutek