Every year, world over on June 21, Amyotrophic Lateral Sclerosis (ALS) Day is observed to create awareness about this progressive neurodegenerative disease which has no cure or definitive treatment. People with ALS lose the ability to initiate/ control muscle movement, which often leads to total paralysis and death. The average life span after diagnosis is two to five years. Inclusion of ALS in the national rare disease policy would send a strong message of inclusivity and support for those living with this disease, experts tell The HEALTH PIONEER

Imagine a scenario where your mind is razor sharp but you are unable to control your muscle movement. So much so that you gradually lose the power of mobility and speech, the ability to swallow or chew and even breathe. Ultimately, the patient needs permanent ventilator support. This is ALS, the rarest of rare diseases,” Dr Nirmal Surya , leading neurologist and chairman of the Indian Academy of Neuro rehabilitation makes the case for the ALS for its inclusion in the Rare Disease category.

ALS affects an estimated 450,000 people worldwide, with an average survival rate of just two to five years. Every 90 minutes someone is diagnosed with ALS and as many minutes someone passes away from this disease. In India alone, it is estimated that around 75,000 to 100,000 people live with ALS.

Professor M Gourie Devi, senior consultant neurologist, Sir Ganga Ram Hospital  points out that in Western countries, people developed ALS in their 60s while in India it was observed that nearly one-third of patients were younger in the age group of 40 to 50 years. 

In fact, a study, “The profile of amyotrophic lateral sclerosis in natives of Western Himalayas: Hospital-based cohort study,” appeared in the Journal of Neurosciences in Rural Practices uphelds Devi’s view. The study was conducted in Himachal Pradesh in 2018.

It too found that ALS patients from India are younger at disease onset and show longer duration of symptoms compared to patients from western countries.

Besides genetic mutations, which have been associated with the familial and sporadic forms of ALS, environmental factors, including smoking, viral infections, and exposure to toxins, metals, solvents, pesticides, radiation and electromagnetic fields have also been linked to the disease.

“About 50% of ALS patients survive for three to five years after the onset of symptoms, while 30 % beyond five years and around 20% may survive longer as it depends on site of onset, rate of progression and availability of assistive devices,” Devi maintains, adding that patients having difficulty in swallowing and breathing die early.

“By integrating ALS into the policy framework, we can enhance awareness among medical practitioners, thereby enabling early and accurate diagnosis, access to affordable treatment options and assistive devices, and supportive therapies that can improve the quality of life and extend the lifespan,” she said, echoing the views of Dr Surya.

The progressive nature of ALS presents unique challenges, requiring comprehensive and multidisciplinary support, including exorbitant specialised medical care, assistive devices, and access to palliative care services.

Being a debilitating condition, ALS not only poses immense financial burden but also adversely impacts the physical, emotional and social well-being of the affected individuals and their families. The inclusion of ALS in the national rare disease policy would send a strong message of inclusivity and support for those living with rare neurodegenerative diseases in the country, as per the ALS Care & Support Foundation. It has identified a few key actions that can make a substantial difference- regular awareness campaigns, financial support, national registry of ALS patients, research and trials in India, multidisciplinary ALS clinics, insurance coverage, and access to global therapies, drugs, supplements and assistive devices.

“However, it is also true that a person living with ALS can lead a productive life. Early intervention, comprehensive  and committed care and support, and advancements in research can significantly enhance the quality of life for those affected with the disease,” said Satvinder Kaur, co-founder of the ALS Care & Support Foundation.

 “Focussed attention on the needs of the ALS community aligns with international best practices in rare disease management. Many countries recognize the significance of ALS and have implemented policies that priortises the unique needs of ALS patients,” asserted Prof Rajinder K Dhamija, Director of the Delhi-based Institute of Human Behaviour and Allied Sciences and Neurologist. According to the ALS Association, about 20 percent of people live five years after their diagnosis, 10 percent live 10 years after their diagnosis and 5 percent live 20 years or more. Probably well known physicist, cosmologist and author Stephen Hawking who managed to survive till 70 years of age was from the  5 per cent category.

Besides, factors such as genetics and age at diagnosis may play a role in a patient’s survival times.

Most people with ALS die from respiratory failure, which occurs when people cannot get enough oxygen from their lungs into their blood; or when they cannot properly remove carbon dioxide from their blood, according to NINDS. In ALS, this happens because the disease can eventually lead to paralysis of the muscles that control breathing, according to the Mayo Clinic.

In the late stages of ALS, it becomes hard for patients to exhale carbon dioxide. “High levels of carbon dioxide in the body cause low levels of consciousness, leading patients to sleep for long periods. Often, patients with ALS die very peacefully while sleeping,” as per The ALS Association.

FACTFILE

What is ALS?

ALS, is a nervous system (neurological) disease that causes muscle weakness and impacts physical function.

ALS is often called Lou Gehrig’s disease, after the famous baseball player who was diagnosed with it. ALS is a type of motor neuron disease that causes nerve cells to gradually break down and die.

In the United States, ALS is sometimes called motor neuron disease.

In most cases, doctors don’t know why ALS occurs. A small number of cases are inherited.

ALS often begins with muscle twitching and weakness in an arm or leg, or sometimes with slurring of speech. Eventually, ALS can affect your ability to control the muscles needed to move, speak, eat and breathe. ALS can’t be cured and eventually leads to death.

What are the symptoms of ALS?

As motor neurons degenerate, they can no longer send impulses to the muscle fibers that normally result in muscle movement.

Early symptoms of ALS often include increasing muscle weakness, especially involving the arms and legs, speech, swallowing or breathing.

When muscles no longer receive the messages from the motor neurons that they require to function, the muscles begin to atrophy (become smaller).

Limbs begin to look “thinner” as muscle tissue atrophies.

What are the effects of ALS?

• The body has many kinds of nerves. There are those involved in the process of thinking, memory, and of detecting sensations (such as hot/cold, sharp/dull), and others for vision, hearing, and other bodily functions.
• The nerves that are affected when you have ALS are the motor neurons that provide voluntary movements and muscle power. Examples of voluntary movements are your making the effort to reach for the phone or step off a curb; these actions are controlled by the muscles in the arms and legs.
• The heart and the digestive system are also made of muscle but a different kind, and their movements are not under voluntary control. When your heart beats or a meal is digested, it all happens automatically. Therefore, the heart and digestive system are not involved in ALS. Breathing also may seem to be involuntary.
• Remember, though, while you cannot stop your heart, you can hold your breath - so be aware that ALS may eventually have an impact on breathing.

What are the early signs and symptoms of ALS?

•  Difficulty walking, tripping or difficulty doing your normal daily activities
•  Weakness in your leg, feet or ankles
•  Hand weakness or clumsiness
•  Slurring of speech or trouble swallowing
•  Muscle cramps and twitching in your arms, shoulders and tongue
•  Difficulty holding your head up or keeping a good posture

What are the treatment options for motor neuron disease or ALS?

*There is no definitive cure for motor neuron disease in India or in any country. Medications and therapy can lower motor neuron disease progression which can be considered as a form of MND cure in India. There are some medications in the market which have proven to slow the disease considerably and should be taken as advised by the specialist. Undergoing surgery should be avoided as much as possible and only to be approached as a last resort.

Can ALS onset be prevented or delayed with early detection?

Unfortunately, the answer is no, for the time being. However, this situation may change with the new development of therapeutic genome editing. In the future, it the mutation may be corrected before the onset of the disease, which will offer a fundamental cure for the disease.