What Is The Disease That Affected Stephen Hawking?

In August 2014, a viral challenge took over the Internet. I’m talking about the very popular “ALS Ice Bucket Challenge”. Every nominated person was expected to overturn a bucket of ice cold water with ice cubes over their head, and/or donate to charity (the rules varied – this is just the gist of it). This viral trend had the sole purpose of raising awareness and finances for Amyotrophic Lateral Sclerosis, commonly known as ALS.

ALS (Amyotrophic Lateral Sclerosis)

Amyotrophic lateral sclerosis, also called Lou Gehrig’s disease, is a progressive neurological disease, i.e., a disease related to the nervous system, which worsens with time. In this disease, the motor neurons of the affected individual begin to die. The motor neurons are responsible for passing signals between the brain, spinal cord and our striated or voluntary muscles.

Humans have 3 types of muscles – voluntary/striated, involuntary/smooth and cardiac. Striated muscles are completely in our control, like the muscles in our hands, legs, face, etc.  Smooth, or involuntary muscles are those that our not in our control, like those of the stomach or intestine. Finally, cardiac muscles are not in our control and are only found in the heart.

type of muscle

Types of muscles – Skeletal (voluntary), smooth (involuntary) and cardiac (involuntary)

When our motor neurons die, in the case of ALS, those muscles are not able to be used. They start shrinking and degenerating and lose their functionality. Eventually, the body is unable to control or even initiate any form of voluntary action.

Cause of ALS

Scientists have identified that mutations in the SOD1 gene are related to the appearance of ALS. This gene codes for the production of an enzyme called superoxide dismutase. This enzyme is present in all our cells and is very important. It prevents an oxygen species called superoxide radicals from destroying the cells.

Another gene associated with ALS is the C9orf72 gene. This codes for a protein found in our neurons. It is said to play a key role in sending and receiving signals between neurons.

Mutations in both these genes have been associated with ALS.

Symptoms of ALS

The initial symptoms of ALS are often undetected, due to their common nature. These involve the stiffness of muscles, weak muscles, twitching, cramps, difficulty breathing, slurred speech, etc. Being a progressive disease, these symptoms worsen over time.

affected neuron and muscle

Difference between a normal and affected neuron and the corresponding muscle

Depending on which motor neurons are first affected, the effects can first be felt in various parts of the body. In limb-offset ALS, the symptoms are first felt in the hands or legs. It presents in the form of awkwardness while running and walking, or difficulty in actions like the buttoning of a shirt or writing. In bulbar-offset ALS, the effects are first felt in the respiratory system, manifesting as difficulty in breathing, swallowing, etc.

The symptoms eventually worsen and spread to other parts of the body, leading to paralysis as the muscles atrophy. The affected individual faces problems while chewing and swallowing, thus making it harder to eat, and increasing the risk of choking. Most patients eventually die to due to respiratory failure.

This may seem a bit surprising, as the disease affects voluntary or striated muscles, whereas breathing is supposed to be an involuntary action. We don’t need to be consciously aware to breathe. However, if you think about it, we also have the ability to hold our breath at will. This clearly shows that, although the muscles of the diaphragm are involuntary, they are an exception, in that they can also be voluntarily controlled. Therefore, they are affected by ALS as well.

The average life expectancy of people with ALS is 2-4 years. Some types can allow the person to live for about 10 years, but rarely more. The 2 rare cases are those of Jason Becker and Stephen Hawking. Jason Becker was a guitarist when diagnosed with the disease. He now composes music through a computer, having lost the ability to play the guitar. Stephen Hawking was 21 when diagnosed with the disease and was given 2 more years to live. However, he survived for another 55 years with the disorder. These 2 examples, however, are extremely rare cases.

Jason Becker

Jason Becker (Photo Credit : Sleaze Roxx)

Diagnosis and Treatment of ALS

There is no specific test that can be used to diagnose ALS. Physicians usually diagnose it by eliminating all other possible reasons. For this purpose, various tests like MRI (Magnetic Resonance Imaging) and EMG (Electromyography) are performed to help eliminate the possibility of other diseases that may cause similar symptoms. The physician must be careful during this diagnosis, as different symptoms of ALS can be caused by various diseases or infections.

There is no treatment or cure for ALS, but there are ways to relieve the symptoms and make life easier for the patients. Unfortunately, these do not slow down the rate of progression of the disease.

Patients facing speech problems, like slurring, can opt for speech therapy. This can be especially helpful in the later stages to maintain communication for as long as possible. Physical therapy is also highly recommended for patients with ALS and other motor neuron diseases. It helps maintain muscle function for as as long as possible.

ALS symptoms

Symptoms of ALS

In the later stages of the disease, or even in the initial stages of bulbar ALS, respiratory help is required. Ventilators are a boon in such times. These can help by inflating and deflating the person’s lungs, thus drawing in and expelling air.

Certain medications have been approved by the FDA that may help in slowing down the progress of the disease. These are riluzole and edavarone. Medications are also prescribed that help in relieving pain, muscle stiffness, cramping, etc.

ALS may not be very common, but it is certainly a painful disease. The patient retains their cognitive abilities and are therefore aware of their rapidly degrading state. Due to this, they may become depressed. Some people also show signs of dementia in conjunction with the disease. However, no link has yet been established between ALS and dementia. It is important for these people to keep their spirits up, however, and for their loved ones to provide support and affection throughout this difficult disease.

References

  1. National Institute of Neurological Disorders And Stroke
  2. Wikipedia.org
  3. Genetics Home Reference(Link 1)
  4. Genetics Home Reference(Link 2)
The short URL of the present article is: http://sciabc.us/6Eu7g
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About the Author:

Mahak Jalan has a BSc degree in Zoology from Mumbai University in India. She loves animals, books and biology. She has a general assumption that everyone shares her enthusiasm about the human body! An introvert by nature, she finds solace in music and writing.

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