He is an icon of science. Stephen Hawking, whose biopic hits theaters this week, is also known for having suffered from amyotrophic lateral sclerosis … since 1963.
The English genius of modern science has his biopic: “A wonderful history of time. The film, directed by James Marsh, traces the life of famous cosmologist Stephen Hawking. He also shifts the spotlight on a poorly understood disease, from which the scientist suffers: amyotrophic lateral sclerosis (ALS) or Charcot’s disease.
3 years survival on average
” A wonderful history of time »Follows Stephen Hawking as soon as he entered Cambridge University (United Kingdom) in 1962. The following year, while he excelled in cosmology, the student developed Charcot’s disease. “Amyotrophic lateral sclerosis is a degenerative disease which is not so rare: in France, there are about 3 to 4 new cases per day, and 8,000 French patients”, explains the Dr Pierre-François Pradat, neurologist in Paris contacted by Why Doctor. For Stephen Hawking, the ax falls quickly: he has only two years to live. But against all odds, the scientist survives. He has now been living with this disease for over 50 years. “The median survival is 3 years, but it must be emphasized that this is only an average. Significantly longer forms of development exist, ”explains Dr Pradat.
Watch the trailer for the film “A Wonderful History of Time”:
Syndrome or disease?
How did Stephen Hawking manage to survive such a poor prognosis? He is not the only patient to mislead the numbers. In the eyes of Dr Pierre-François Pradat, these exceptions reflect still partial knowledge on amyotrophic lateral sclerosis. “We do not know very well the determinants of ALS. It is a heterogeneous disease: we probably group together different diseases in their physio-pathological mechanisms ”, summarizes this neurologist at the Department of Diseases of the Nervous System at the Pitié-Salpêtrière hospital. “The big question is: is it a syndrome – therefore a set of signs corresponding to different diseases – or a single disease? One of the axes of research is trying to better characterize the subtypes, and to differentiate them in terms of mechanism. “
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Two forms of SLA ALS is the 3th most common neurodegenerative disease, after Alzheimer’s and Parkinson’s disease. Of familial or sporadic origin, it attacks motor neurons, nerve cells that control muscle contraction. It manifests itself in most cases by weakness and muscle wasting in the arms or legs with – eventually – paralysis. As the disease progresses, patients experience spasms of atrophied limbs and respiratory failure. Two forms exist: the spinal form – which begins with the involvement of a limb – and the bulbar form – which begins with the involvement of the muscles of the mouth. “These two forms can succeed each other or develop simultaneously, the disease almost always progresses to a complete form”, specifies Orphanet, the portal for rare diseases. |
“We follow patients and improve their comfort”
The cases defying medical knowledge make it possible to better understand the modes of action of Charcot’s disease. “We can think that some patients have protective genes, a genetic capital which makes it possible to protect themselves from the mechanisms of the disease”, advance Pierre-Francois Pradat. But this is not the only hypothesis. “Either they have a less aggressive disease, or they have more effective compensation phenomena”, continues the neurologist. “Some lost functions can be compensated for, this is called neuronal plasticity. For reasons in particular genetic, these phenomena could be more effective in certain patients. “
The hypotheses are multiplying as researchers are still trying to understand how amyotrophic lateral sclerosis occurs. “Certain genes have been identified, but they concern 5 to 10% of familial cases. It happens that we find it in sporadic cases ”, underlines the Dr Séverine Boillée, researcher at the Brain and Spinal Cord Institute (CRICM), contacted by Why Doctor. “Patients don’t always understand why we’re working on these cases, but it’s important because every patient is different. To find common pathways, it is necessary to be able to compare all these family forms, to develop models of the disease. Then we can see if the sporadic patients are affected. “
Stephen Hawking (Eddie Redmayne) and Jane Wilde (Felicity Jones), newlyweds in “A Wonderful Tale of Time.” ALS begins to disrupt Stephen Hawking’s motor functions. (AP Photo / Focus Features / Liam Daniel)
These years of research have made it possible to better identify the genetic factors, failing to point out environmental factors. But it is in terms of care that the progress is most striking: “There is a neuroprotective treatment, but it is not very effective. What has improved is care, especially in referral centers. I am thinking in particular of the development of techniques to overcome certain deficiencies, such as the mask ventilation system ”, concludes the Dr Pierre-François Pradat. In “A Wonderful History of Time”, Stephen Hawking is intubated, which prevents him from speaking. “The most important element is the monitoring of patients, who were previously abandoned by medicine, who did not have the means to take care of them”, continues the specialist. “We don’t have more treatments, but we follow patients and improve their comfort. “
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