What is the muscular dystrophy ALS that Stephen Hawking has?

Next Thursday, December 21, a medical conference will be held in Tel Aviv to find ways to promote research into the incurable disease

Stephen Hawking, as photographed during his visit to Neve Shalom, December 12, 2006. Photo: Mati Milstein, courtesy of the British Embassy in Israel

Scientist Stephen Hawking is the most famous person suffering from the rare and incurable muscular dystrophy ALS. His visit to Israel makes it possible to direct public attention to the 600 patients in Israel with the serious disease. Below is an article about the disease written by Dr. Boaz Waller, director of the neurology department at the Bnei Zion Medical Center in Haifa, and details about a medical conference that will be held next Thursday, December 21, and which will deal with ways to advance the study of the disease:

Muscular dystrophy ALS is the most severe of the group of degenerative diseases that damage the motor neurons. The disease is rare and incurable. This disease is also known as "Lou Gehrig" disease after an American baseball player who contracted the disease in the thirties. In England it is known as motor neurone disease (MND), and in France as Charcot disease.
This disease damages the peripheral motor neurons through which the brain supervises the activation of most of the voluntary muscles in the body. The nerve cells are destroyed and as a result they cannot activate the muscles. As a result, the muscles weaken until they are completely paralyzed. During the course of the disease, the muscles responsible for activating the limbs, swallowing, steering and breathing are gradually damaged, in a non-fixed order.
The incidence of the disease is between 2-1 patients per 100,000 people per year, where in 10% of cases it is a dominant hereditary disease. The common age for the onset of the disease is 65-45, when there are reports of older and even younger people (although these are rare cases).

The first signs of the disease are often mild and non-specific, which sometimes causes a delay in the diagnosis of the disease. The signs of the disease can manifest as muscle weakness in the upper and lower limbs with difficulty in performing certain movements, difficulty in writing and lifting objects. There is also difficulty in climbing and prolonged walking, or falling during it. Also there are muscle contractions, changes in voice and steering and/or difficulty in swallowing. Dropping the head due to weakness in the neck muscles can also appear at the beginning of the disease.
The important diagnostic test is the EMG - the recording of the electrical activity of the muscles showing dysfunction of the motor neuron, while the sensory nerves are functioning normally.

The appearance of the disease and its progression differs from patient to patient, and it is very difficult to predict the rate of progression of the individual patient. The typical course is progressive weakness in the muscles of the limbs until complete paralysis of the arms and legs, and the weakening of the muscles responsible for swallowing, chewing and speaking, until damage to the respiratory muscles, when most patients die as a result of this damage.

Most patients live between 2 and 5 years. About 20% of patients live between 5 and 10 years and 10% of patients live more than 10 years.

The cause of the disease is unknown and hence the great difficulty in finding an effective medicine.
Several possible mechanisms for the disease have been proposed:
Environmental toxic factors - nerve cell poisoning by metals, chemicals or foods.
A high level of glutamate activity - glutamate is a chemical that stimulates nerve cells. The presence of this substance in excess and increased activation of the nerve cell, causes damage to the muscle cells to the point of death.
Lack of substances responsible for the growth and preservation of the nerve cell. Also, a higher than normal accumulation of cell components and damage to the immune system were suggested as additional factors.
Inheritance - in some genetic patients, the genetic deficiency causes a disturbance in the production of a protein whose function is to neutralize the activity of toxic substances called "free radicals". These substances can cause the death of the nerve cell.

None of these factors have been proven with certainty as the cause of the disease, with the exception of the genetic factor and glutamate excess. It is possible that a combination of several factors is the basis of the disease.

Many drugs have been tried in ALS but without real success. The only drug that slowed down the rate of disease progression is Riluzole. Unfortunately the improvement in life expectancy was only two months. The supportive treatment includes relief of stiffness, speech disorders, spasms and swallowing disorders.

An important treatment is the treatment that supports the patient and his family members. This treatment provided to the patient includes physical therapy, medical aids, speech therapist, nutritional support, respiratory support and mental support.

Since this is a severe and terminal illness and the patient has an insight into his condition, it is acceptable to discuss with the patient even in the less severe stages of the illness, regarding his wish for the soul.

On December 21, a medical-scientific conference will be held in Tel Aviv to study the disease:

Israel's Muscular Dystrophy Research Association A.L. AS is holding a scientific conference where the leading studies in the research of the incurable disease will be presented. The conference will be held on Thursday, December 21, in Tel Aviv and will be attended by doctors, researchers and businessmen.

The main guest at the conference will be Prof. Tom Maniatis from Harvard University who will review the latest developments in the study of the disease. Alongside him will be speeches by the best experts in Israel in this field, including researchers from the Technion, the Weizmann Institute, the Hebrew University, Tel Aviv University, Tel Hashomer Hospital and Sourasky Medical Center (Ichilov).

The IsrA.LS association was initiated and founded by David Cohen, a businessman from Haifa who contracted the disease, with the help of patients and friends for the purpose of promoting finding a cure for the disease. The association focuses on promoting ALS research with the best researchers in Israel, and on raising resources for these studies. The association is creating a quiet revolution in the field of cancer research. ALS in Israel thanks to its determined activity. As of today, 18 research proposals have been submitted from the best researchers: 6 studies have already started, and the rest are looking for funding. These studies may shed new light on the disease and bring closer to finding a cure for this terrible disease.

The conference program is published on the association's website: www.israls.org

You can donate NIS 10 to the association's activities by sending the number 10 from any cell phone to the number: 6789.

• Stephen Hawking's lecture "The Origin of the Universe" at the Hebrew University in Jerusalem, December 2006
• Hawking takes off in a plane that simulates zero gravity