1. Amyotrophic lateral sclerosis (abbreviated ALS, also referred to as Lou Gehrig's disease) is a disease where the muscle in the arms, hands and legs, throat, tongue and muscles necessary for breathing loses its strength gradually. However it is not a disease of the muscle itself, rather only the nerves(motor neurons)that move the muscles for movement are affected and the message from the brain such as to “move the arms and legs” are not relayed which results in losing strength and thinning of the muscles. On the other hand, it is normal for the senses of the body, intellect, vision, hearing and the internal organs remain intact.
2. How many people are diagnosed with this disease
Annually, there is about 1 in 100,000 who is newly diagnosed with this disease. In Japan there are about 8300 accounted for afflicted with this disease, according to the number of patients receiving special medical financial assistance.
3. What kind of people gets this disease?
The male, female ratio is 2:1; with male being the more. Anybody after the middle age may get this disease, but the most commonly afflicted are in the age range of between 50~60. In rare cases, people much younger may get it. Any specific work fields do not seem to have more cases of this disease.
4. Are the causes of the disease known?
The cause of the disease is unknown. There are theories such as metabolism of amino acid and relationship with free radicals, but no conclusions yet. In 20 percent of Familial ALS, a gene that produces an enzyme, super oxide dimutase is found to have gene mutations. Recently the genes, TDP43, FUS and optineurin has also been found to have mutations.
5. Is this disease hereditary?
In most cases it is not hereditary. If one of the parents, siblings, or a grandparent does not have the disease there is no need to worry about inheriting the disease. On the other hand, about 5 to 10 percent do have it within the family, which is called Hereditary ALS. In this case, most do have one of the parent, a sibling or a grandparent with ALS. As mentioned in the above, the gene mutation of super oxide dimutase is the cause in 20 percent of them.
6. What are the symptoms of this disease?
In most cases, it starts with clumsiness of the fingers and hands and weakening from the elbow and down, and thinning of the muscle. There are cases where it starts by having difficulties in speaking and swallowing. In either of the cases, there will come a time when all the muscles in the body, including the muscles to breathe will thin to where no strength is left, walking will no longer be possible and finally becoming bedridden, the patient will not be able to swallow water and food and breathing will be limited. Even if the disease progresses, senses and intellect are usually not affected, and eye mobility disability and incontinence is rare.
7. What kinds of treatments are available for this disease?
1. The medicine to delay the progression of ALS, Riluzole (product name Rilutek) has been approved by Japan.
2. It is important to rehabilitate daily to ease the pain of the muscle and joints that come along with ALS. Please consult with your doctor, district health office, care manager(social worker) of the Care Insurance(medical) or the appropriate personnel from the center of intractable disease medical communication organizaion at each prefecture（http://www.nanbyou.or.jp/soudan/nanren.htm） about how to rehabilitate.
3. For breathing difficulties, there is a non invasive method of using a nose mask to aide in breathing or an invasive method of a tracheotomy.
4.If there are difficulties swallowing the following are ways to arrange the form of food(as a strict rule, soft and juicy food, bland tasting food, and cold foods are easy to swallow), swallow in little portions, pulling the chin in when swallowing are some ways of eating and swallowing that can help. When swallowing becomes even more difficult, there are several options, a tube can be inserted through the abdomen into the stomach (g-tube), inserting a tube through the nose into the esophagus to the stomach for feeding, or getting nutrients through an IV. Currently, G-tube is the most common way to get nutrients.
5. Progression of symptoms such as difficulties in speaking, no strength in hands makes it harder to communicate with families and other people. It is important to learn new ways of communication at an earlier point. Practice is first necessary to use a communication board called the letter board.(There is an entrance course on the website of Niigata prefecture office of ALS Association http://www.jalsa-niigata.com/). If even a part of the body or the mobility of the eye is left, there are appropriate computer multimedia technology, and switch option that makes communication possible. (http://www.als-mda.org/publications/everydaylifeals/ch6/)link added by Christine Shirota. Please consult with your doctor, district health office, care manager (social worker) of the Care Insurance(medical) or the appropriate personnel from the center of intractable disease medical communication organizaion at each prefecture（http://www.nanbyou.or.jp/soudan/nanren.htm）for more information.
8. How does this disease progress?
This disease is always progressive and once having the disease the symptoms do not become better. No matter which muscle part of the body it starts, sooner or later the entire muscle is affected and at the end, the diaphragm stops function and most die from losing the ability to breathe. When not using a ventilator support, it usually takes about 3-5 years from diagnose to death, but some are able to live for over 10 years and go through a very slow decline during a long period. On the other hand, there are cases where breathing stops at a much faster progression. Especially, in many of the cases of the elderly, that start with symptoms such as speaking difficulties, hard to swallow food have a fast progression. The important point is that the progression varies widely between each patient and treating each one accordingly will b necessary.
Translated by Christine Shirota