Renowned theoretical physicist Stephen Hawking died on March 14, 2018, at age 76. For much of his time in the public eye. Though, he has been confined to a wheelchair by a form of the motor-neuron disease amyotrophic lateral sclerosis (ALS). Stephen Hawking was diagnosed with amyotrophic lateral sclerosis. It commonly referred to as ALS, when he was 21 years old he conquered the disease to live up to 76 years.
What is amyotrophic lateral sclerosis?
Amyotrophic lateral sclerosis (ALS) is a group of the rare neurological disorder. ALS typically involve the nerve cells (neurons) responsible for controlling voluntary muscle movement. Voluntary muscles produce movements like chewing, walking, and talking. The disorder is progressive, which means the symptoms get worse over time. Currently, there is treatment option are emerging to cure ALS by halting or reversing the progression of the disease.
ALS belongs to a wider group of disorders known as motor neuron diseases, which are induced by gradual deterioration (degeneration) and dying of motor neurons. Motor neurons are nerve cells that extend from the brain to the spinal cord and to muscle tissue throughout the body. These motor neurons initiate and provide necessary communication links between the brain and the voluntary muscles.
Messages from motor neurons in the brain (called upper motor neurons) are transmitted to motor neurons in the spinal cord and to motor nuclei of the brain (called lower motor neurons) and from the spinal cord and motor nuclei of the brain to a specific muscle or muscles.
In ALS, both the upper motor neurons and the lower motor neurons degenerate or die, and cease sending messages to the muscles. Unable to function, the muscle tissues progressively weaken, start to twitch (called fasciculation’s), and waste away (atrophy). Eventually, the brain loses its capacity to initiate and control voluntary movements.
Early symptoms of ALS commonly include muscle weakness or stiffness. Gradually all muscle tissue under voluntary control are affected, and people lose their strength and the capacity to speak, eat, move, and even breathe.
Most people with ALS die from respiratory failure, usually within 3 to 5 years from when the signs first appear. However, about 10 percent of people with ALS live on for 10 or more years.
Who gets ALS?
There are a number of potential risk factors for ALS including:
Age. Although the disorder can strike at any age, symptoms most often advance between the ages of 55 and 75.
Gender. Men are slightly more likely than women to develop ALS. However, as we age the difference between men and women disappears.
Race and ethnicity. Most likely to develop the disorder are Caucasians and non-Hispanics.
The majority of ALS instances (90 percent or more) are considered sporadic. This potential the disorder seems to occur at random with no definitely related risk factors and no family history of the disease. Although family members of people with sporadic ALS are at a high risk for the disease, the common risk is very low and most will not increase ALS.
Familial (Genetic) ALS
About 5 to 10 percent of all ALS cases are familial, which means that an individual inherits the disease from his or her parents. The familial form of ALS normally requires one parent to carry the gene responsible for the disease. Mutations in more than a dozen genes have been observed to cause familial ALS. About 25 to 40 percentage of all familial cases (and a small share of sporadic cases) are caused by a defect in a gene known as “chromosome 9 open reading frame 72,” or C9ORF72. Interestingly, the identical mutation can be related to atrophy of frontal-temporal lobes of the brain causing frontal-temporal lobe dementia. Some people carrying this mutation can also show signs of both motor neuron and dementia signs (ALS-FTD). Another 12 to 20 percent of familial cases result from mutations in the gene that provides instructions for the production of the enzyme copper-zinc superoxide dismutase 1 (SOD1).
Early stage ALS
Early signs of ALS are normally characterized by muscle weakness, tightness (spasticity), cramping, or twitching (fasciculations). This stage is also related with muscle loss or atrophy.
Symptoms at this stage are usually limited to a specific part of the body, and often the first start in the arms or hands, making daily tasks, such as buttoning shirts or opening a can of food, hard to execute. Alternatively, they may first appear in a leg — in either case, a disease that starts in the hands or legs is often referred to as “limb onset” ALS. The muscular issues can also cause people to experience fatigue, poor balance, slurred words, loss of grip strength, or to trip or fall when walking.
Middle stage ALS
During the middle stages of ALS, muscle weakness and atrophy spread to other parts of the body. Some muscle tissue grows to be paralyzed, while others lose strength. Some occasionally used muscular tissues may become permanently shortened, causing contractures in which joints (e.g., elbows) are no longer capable to completely straighten.
People may also improve problems in walking, and in swallowing (dysphagia) and chew food, which increases the danger of choking. Other issues associated with increasing muscle weakness include difficulty speaking and breathing (dyspnea), and uncontrollable and inappropriate laughing or crying, a reaction called the pseudobulbar affect.
Most ALS patients retain higher mental and reasoning abilities and are conscious of their progressive loss of muscular function.
Late stage ALS
As ALS progresses, most voluntary muscle tissue become paralyzed. As the muscle tissue of the mouth and throat, and those involved in breathing, become paralyzed, eating, speaking, and respiration is compromised. During this stage, eating and drinking are usually required a feeding tube. Breathing is assisted by a ventilator.
Most people with ALS die due to respiratory failure, and the prognosis is generally three to 5 years after the first signs and symptoms appear. Less common reasons of death may also result from malnutrition, pulmonary embolism (obstruction of a lung artery), coronary heart arrhythmias (the heart beating faster or slower than normal, or irregularly), and pneumonia due to aspiration (which happens when food or water gets into the lungs).
How is ALS treated?
There are no much options or treatment options are available for ALS. However, there are treatments on hand that can assist, end complications, manipulate signs and make living with the disease easier.
Supportive care is excellent provided by multidisciplinary organizations of health care professionals such as physicians; pharmacists; physical, occupational, and speech therapists; nutritionists; social workers; respiratory therapists and medical psychologists; and home care and hospice nurses. These organizations can plan individualized treatment options and provide unique equipment aimed at keeping people as mobile, comfortable, and independent as possible.
Some elements for ALS treatments are given below:
- Physical therapy
- Speech therapy
- Nutritional support
- Breathing support
New Treatment Options for Neurodegenerative diseases
Now there are new treatment emerging for ALS and the Ray of hope for patients suffering from the disease. New approaches to deal with ALS thru Stem Cell Research. Neurodegenerative diseases such as amyotrophic lateral sclerosis, Huntington’s disease, Parkinson’s disease, a couple of sclerosis, Alzheimer’s disorder and many others afflict thousands and thousands of people around the globe.
The need for treatments that can exchange or repair dead or damaged neurons has naturally led to stem cell-based therapies.
In common, there are two distinct and methods of treating neurodegenerative diseases with cellular treatments- damaged or dead neurons. stem cells can be used to exchange dead or can be used to support damaged neurons, through a variety of mechanisms which includes suppressing the immune system and inflammation, secretion of extending factors, and differentiation into glial cells.
The emerging New techniques are boon to the patients suffering from Neurodegenerative diseases. Ongoing research in this field by research giants are approaching fast to conquer the disease.
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