At the onset of ALS the symptoms may be so slight that they are frequently overlooked. With regard to the appearance of symptoms and the progression of the illness, the course of the disease may include the following:

• 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 ALS can be quite varied in different people. One person may experience tripping over carpet edges, another person may have trouble lifting and a third person's early symptom may be slurred speech. The rate at which ALS progresses can be quite variable from one person to another. Although the mean survival time with ALS is three to five years, many people live five, ten or more years. 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, ultimately, the patient will need permanent ventilatory 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.

Based on U.S. population studies, a little over 5,600 people in the U.S. are diagnosed with ALS each year. (That's 15 new cases a day.) It is estimated that as many as 30,000 Americans have the disease at any given time. 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 associate with ALS. More work is needed to conclusively determine what genetics and/or environment factors contribute to developing ALS.

Half of all people affected with ALS live at least three or more years after diagnosis. Twenty percent live five years or more; up to ten percent will live more than ten years.

There is some evidence that people with ALS are living longer, at least partially due to clinical management interventions, riluzole (Rilutek®) and possibly other compounds and drugs under investigation.

Three classifications of ALS have been described:

• Sporadic - the most common form of ALS in 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 ALS was observed in Guam and the Trust Territories of the Pacific in the 1950's.

The most common form of ALS in the United States is "sporadic" ALS. It may affect anyone, anywhere. "Familial" ALS (FALS) means the disease is inherited. Only about 5 to 10% of all ALS patients appear to have genetic or inherited form of ALS. In those families, there is a 50% chance each offspring will inherit the gene mutation and may develop the disease.

ALS is a very difficult disease to diagnose. To date, there is no one test or procedure to ultimately establish the diagnosis of ALS. It is through a clinical examination and series of diagnostic tests, often ruling out other diseases that mimic ALS, that a diagnosis can be established. 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.

Present treatment of ALS includes 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. Click here for more information on Rilutek.

Symptomatic Treatment of ALS
A presentation prepared for healthcare professionals, people living with ALS and their families, focusing on symptom management and what can be done to help people living with ALS be more independent, live longer and have a good quality of life. Click here to view this presentation.

As ALS progresses, you may face decisions about how to treat complications, such as difficulty eating, swallowing, breathing or lung infections caused by these problems. The choice you make has to be right for you and may be different from the choice another PALS might make.

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 PEG.

In some people with ALS, the muscles that control breathing may become weak. Initially, extra oxygen can be given through a flexible plastic tube that is placed in the nostrils (a nasal cannula). For mild breathing problems, machines that deliver air or extra oxygen through a mask may be used. These machines are called bi-level positive airway pressure (BiPAP), or noninvasive positive pressure ventilation (NPPV) machines. Other breathing options may be available to you and should be discussed with physicians trained in treating patients with ALS.

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 ALS was diagnosed. Physical and occupational therapy and a wide range of support devices can help you keep your independence.

At the Maryland ALS Clinic, you will have an opportunity to discuss your ALS needs with a highly trained group of professional caregivers.

• The onset of ALS is 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.
• ALS is not contagious.
• It is estimated that ALS is responsible for nearly two deaths per hundred thousand population annually. More people die every year of ALS than 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 ALS each 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 ALS patient 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 ALS live 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 ALS has stopped progressing and a small number of people in whom the symptoms of ALS reversed.
• ALS occurs throughout the world with no racial, ethnic or socioeconomic boundaries.
• ALS can strike anyone.
• Present treatment of ALS includes 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 ALS to 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 ALS by 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 ALS database reported taking Rilutek