An expert on Lou Gehrig (ALS or lateral myeloid sclerosis) explains what we know about cases where the patient's powers are draining, and how Stephen Hawking was able to overcome the difficulties. Stephen Hawking, 73, has been able to overcome a terrible diagnosis of the disease for almost half a century. The famous theoretical physicist has brought his ideas of black holes and quantum gravity to large audiences. Despite spending most of his time in front of the public sitting in a wheelchair because of some type of motor neuromuscular disease, an atherosclerosis (ALS). Since 1985 he has been speaking through his computer, which he employs with his cheek, and gets constant care around the clock.
But his illness seems to have barely slowed him down. Hawking spent 30 years as a full-time professor of mathematics at Cambridge University. He is currently Director of Research at the Center for Cosmology. But, as his mind, his illness appears to be unique. Because most patients with lateral myeloid sclerosis - also known as Lou Gehrig (the famous baseball player who died of it - are diagnosed with the disease at the age of 50 and die five years later. Hawking was diagnosed at the age of 21 and did not expect to see his 25th birthday. Why was Hawking able to live long with this bug while many people died shortly after being diagnosed with the disease? We spoke with the associate professor of neuroscience and medical director of the Center for Skeletal Sclerosis of the University of Pennsylvania, Leo McClowsky, to learn more about the disease and how he saved Hawking and his wonderful mind.
What is MS, and is it one type or more? Skeletal sclerosis, also known as motor neuron disease - and generally Lou Gehrig disease in the United States - is a neurodegenerative disease. Each muscle is controlled by the motor neurons in the brain in the frontal lobe. Are electrically stimulated and interrelated with the motor neurons at the bottom of the brain, as well as the motor neurons in the spinal cord. Cells in the brain are called upper motor neurons, and cells in the spinal cord are called lower motor neurons. The disease causes weakness in either upper or lower motor neurons or both.
It has been known for a long time that there are types of MS. One is referred to as progressive muscle atrophy, or PMA. It appears to be an isolated disease of the lower motor neurons. However, if we perform a patient dissection, we will find signs of deterioration of the upper motor neurons. Primary lateral sclerosis, or PLS, is also clinically seen as isolated insomnia in upper motor neurons. However, as well as pathological dissection, they also cause disturbance in the lower motor neurons. Another traditional syndrome is progressive Baldor palsy, which causes weakness in the skull muscles, such as tongue, face and swallowing muscles. But they are always spread to the muscles of the limbs. These are the four traditional disorders of motor neurons. It was thought for some time that these disorders were confined to motor neurons. But it turned out that this thing was different. It is clear today that in 10% of these patients, the disease can develop in another part of the brain, such as other parts of the frontal lobe that do not contain motor neurons or temporal lobe. So these patients may be exposed to dementia, which is known as the frontal-temporal lobe. One of the misconceptions about MS is that it is just a disease of motor neurons, but that is not true.
What has Stephen Hawking's case shown about the disease? One thing that this man's biography highlights is that this disorder is incredibly variable in many ways. On average, people live two to three years after diagnosis. Half of them live longer, and there are people who live for long periods of time. Life expectancy depends on two things: the motor neurons that move the diaphragm, that is, the breathing muscles. The common way people die is due to respiratory failure. The other is the deterioration of swallowing muscles, which in turn lead to malnutrition and dehydration. So if you do not have these, you're likely to live longer, even though your condition will get worse. What happened to him is amazing. Is a unique case.
Did he live for a long time because of a kind of disease that affects young people, and was able at an early age to deal with him? Juvenile-onset diseases are diagnosed in adolescence. I do not know much about his life to talk. But it is likely to be something similar to juvenile disorders, which is a disorder that develops very slowly too. I know patients in my clinic who were diagnosed in their teens and still live in their 40s, 50s and 60s. But since I have never examined him or seen his history, it is hard for me to judge.
It is a very good example of excluding the non-motor parts of the brain.
How many slow-forward cases of lateral muscle stiffness? Perhaps less than a small percentage. I think the length of the life of Stephen Hawking was due to the excellent care he received or because of his unique condition of lateral muscle stiffness? Maybe a little of both. I only know him on television, so I do not know what kind of interventions he got. If the artificial respirator is not actually used, then biology will be his own, the biology of the type of neurological disease that has afflicted him and determines how long he will live. As for swallowing problems, you can choose to put a feeding tube, which removes malnutrition and dehydration. But basically, it's biology.
Hawking clearly has an effective mind, and it seems from his earlier statements that he has a very positive state of mind, despite his health. Is there any evidence that lifestyle and psychological well-being help a lot? Or is it usually too fast to make a difference?
I do not think that adds to longevity. Skeletal muscle disease continues to be untreated. What have we learned about the disease recently can help us find one, or at least better treatments? It was evident at the beginning of 2006 that, like all other neurological diseases, lateral muscular sclerosis is determined by the accumulation of abnormal proteins in the brain. And 10% of MS are genetic and based on a genetic mutation. I'm also sure there are genes at risk of lateral myeloid sclerosis, but today there are multiple genes that have been identified as pathogenic. Each one is interesting in the way it brings together different proteins in the brain. Knowledge of specific genes gives them specific mechanisms in the brain, and may give us targets for treatment. But none of these have given us powerful treatments yet.
What does Stephen Hawking's case mean for people with the disease? It is an amazing example, very amazing about the vast variation in disease, and the hope for patients with it that they can also live a long life. Unfortunately, this happens only to a small percentage of people.
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