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The world will remember Stephen Hawking not just for his intellectual genius in physics, but also for his resilience to one of the most incapacitating diseases — amyotrophic lateral sclerosis (ALS). The greatest mind of the century, Hawking passed away on March 14, 2018, at the age of 76 after a long struggle with the motor-neurone disease.
Known to reduce life expectancy to two-five years from the time the symptoms appear, ALS kills half the patients within 14 months of their diagnosis. However, Hawking who first developed the disease when he was 21-years-old, lived for over 50 years with it.
What is ALS?
It is a neurodegenerative disorder that can befall anyone. More than 90 per cent cases of the motor neurone disease are on account of ALS, which causes nerve cells in the brain and spinal cords, called neurones, to degenerate and eventually die.
What happens in ALS?
The nerve cells (neurones) play an essential role in transporting messages from the brain and spinal cord to the muscles, thereby helping to coordinate and control the body’s movements. Without these, the brain cannot regulate muscle movements properly and the muscles cannot work properly, leading to muscle weakness, wasting away of the muscles and, eventually, paralysis.
How did ALS affect Hawking?
Unlike most cases, Hawking’s disease had been quite different from the onset. While for many, ALS would strike at a later stage in life, say around the age of 55, but the physicist starting feeling the symptoms even before turning 21. For Hawking, it all began with a stumble and later progressed on to clumsiness and eventual paralysis.
What are the symptoms of ALS?
There is a loss of muscle function due to degeneration of neurones and the limbs begin to waste away. The early signs can be tripping easily while walking or dropping things. The muscles in the hands and feet can ‘twitch’ and ‘cramp’ often as well. When the disease has reached an advanced stage people often find it hard to speak, swallow and breathe properly.
Death due to ALS is usually caused by the failure of respiratory muscles.
What causes ALS?
ALS can be due to various genetic mutations and chemical imbalances as it is both inherited and otherwise. People suffering from this disease have higher than normal levels of glutamate, which is a chemical messenger in the brain, present around the nerve cells in their spinal fluid. Many scientists believe that high levels of glutamate can cause the nerve cells to die, as per the ALS Association.
Can the disease be treated?
Rilutek is said to be the only drug licensed as a treatment for ALS. It blocks the release of glutamate by the central nervous system. However, its effect is limited and it extends survival by three to six months.
Attempts have been made to minimise the effects of the disease by using ventilation systems that help with breathing, feeding tubes for swallowing and muscle relaxants to ease cramping.
What are the other study treatments underway?
Scientists are currently working on trials, which involve the use of a lithium-based drug. Though it has shown promising results in mice, the work is still at an early age.