what is Amyotrophic Lateral Sclerosis (ALS)? Amyotrophic lateral sclerosis is a progressive neurologic disease characterized by the damage of nerve cells in the brain and spinal cord.

This disease primarily damages the neurons that control the voluntary movements (the movements which are in our control, such as walking, talking, breathing, or chewing) of the body. Since ALS is a progressive disease, its symptoms get worse over time and can`t be controlled.

It is known by another common name called Lou Gehrig`s disease. It is named after a famous baseball player who was diagnosed with this disease.

Unfortunately, doctors are unable to find the cause of ALS. Its most cases are acquired. At present, there is no specific treatment to stop or reverse its progression.

ALS usually comes under a wider group of disorders, called motor neuron diseases. This class gradually degenerates (deteriorates) the nerves that are necessary for motor movements. These neurons extend from the brain to the muscles via the spinal cord.

As motor nerve cells degenerate, the brain stops sending impulses (messages) to the muscles. As a result, muscles weaken and start twitching. Finally, those unenervated muscles show deterioration (atrophy).

Eventually, the brain and spinal cord lose their ability to stimulate and control muscle contractions.

Early symptoms of amyotrophic lateral sclerosis usually include muscle stiffness, weakness, and twitching. Later on, it affects all the voluntary muscles of the body. People lose their ability to walk, talk, breathe, and even speak.

Most people with ALS die from respiratory failure within 4 to 5 years. About 10 percent survive and can live for almost another 10 years. There is no treatment for this lethal disease.

Steven Hawking, a great physicist, had a diagnosis of amyotrophic lateral sclerosis (ALS). A French doctor Jean-Martin discovered ALS in the 19th century. As ALS is one of the motor nerve diseases, some others are:

• Progressive bulbar palsy (PBP)

• Primary lateral sclerosis (PLS)

• Pseudobulbar palsy

Symptoms:

Signs and symptoms of ALS depend upon the type of neurons affected. As a result, its symptoms vary from person to person.

Usually, these symptoms emerge in the 50s or early 60s but also can occur at other ages. In the first stages, signs, and symptoms may be poorly noticeable, but the muscular functions are lost.

Early symptoms involve:

• Difficulty walking or performing other daily actions

• Muscle twitching

• Muscle spasms and rigidity

• Muscle weakness in the leg, arm, and tongue

• Difficulty speech (slurred speech)

• Difficulty eating or swallowing

• Buttoning a shirt

As the early symptoms appear in your hands, you feel difficulty performing simple chores, such as writing and buttoning a shirt. In other cases, ALS symptoms affect one leg initially. People have problems with walking and running.

There is usually no pain in the early stages. When these symptoms appear in arms or legs, the condition is called “Limb Onset” ALS. When these symptoms cause difficulty swallowing or eating, this is called “Bulbar Onset” ALS.

Late symptoms:

As the illness progresses, atrophy spreads to the other areas of the body. People face difficulty eating, swallowing (called dysphagia), speaking (called dysarthria), and breathing (called dyspnoea). Although the sequence of emerging symptoms and their progression vary individually, ultimately people will not be able to walk, stand, and even eat.

These people also burn their calories at a faster rate than people who don’t have ALS. Due to these factors, people lose weight and become malnourished. As ALS doesn’t affect higher mental functions, people usually have the idea of losing functional capabilities.

They may develop anxiety and depression as a result. A few people may get problems with their decision-making ability, and there is a piece of proper evidence that those people also suffer from dementia (frontotemporal dementia) during the later stages.

Pain is uncommon in the later stages of ALS. Individuals with ALS lose their capability to breathe on their own and have to depend on a ventilator.

People in the later stages of ALS are at a higher risk of developing pneumonia. They may also suffer from neuropathy (nerve damage).

Types of Amyotrophic Lateral Sclerosis (ALS):

There are two types of ALS.

1. Sporadic ALS:

Almost all cases of ALS are sporadic, which means that this disease can occur to anyone randomly, without any risk factor or family history. If any of your elder family members have ALS, your chances of having this increase.

It is the most common class and accounts for 90-95 percent of total ALS cases.

2. Familial ALS:

Almost 5-10 percent of all ALS cases are familial, which means that you acquired this disease from your parent. Mutated genes in only one parent can cause this disease.

• Almost 30-40 percent of cases of familial ALS are caused by a mutation in the C90RF72 gene. It encodes a protein that is found in the nerve cells of the brain and spinal cord. Scientists find out the genetic link between ALS and frontotemporal dementia. Both are neurodegenerative diseases.
• Another 12-20 percent of cases of familial ALS are diagnosed with a defect in the SOD1 gene that plays a role in the production of copper-zinc superoxide dismutase 1 enzyme.

What are the causes of Amyotrophic Lateral Sclerosis (ALS)?

It is still unclear that what causes ALS. It affects the motor neurons in the brain and spinal cord, which causes the loss of voluntary movements.

ALS gradually progresses and deteriorates the nerve cells. ALS is inherited in 5-10 percent of all cases. And the causes of 90-95% of all cases are not known yet.

However, scientific studies suggest that both genetics and environment play a role in the degeneration of motor nerve cells and the development of ALS.

Other possible causes include:

• Disorganized autoimmune response:

The immune system attacks nerve cells of the brain and spinal cord.

• Protein mishandling:

In this scenario, proteins are mishandled and not processed correctly by the nerve cells. They accumulate in these cells and kill them.

• Specific neurotransmitter imbalance:

Glutamate is a neurotransmitter in the brain and is found to have increased in the nerve cells. It is known to be toxic to nerve cells in higher amounts.

Risk factors of Amyotrophic Lateral Sclerosis (ALS):

Genetic risk factors include:

• Heredity.

Almost 5-10% of the people with ALS inherit it if any of their parents have this (familial ALS). In most people with ALS inheritance, their children usually have a 50-50 uncertainty of exhibiting the disease.

• Age.

ALS risk raises with age and is most prevalent between the ages of 50 and the mid-60s.

• Sex.

Before the life of 65, somewhat more men than women suffer from ALS. This sex differentiation ceases after age 70.

• Genetics.

Remarkable studies analyzing the whole human genome observed many connections in the hereditary variations of persons with familial ALS and some persons with noninhibited ALS. These genetic mutations might make people more sensitive to ALS.

Some possible environmental risk factors are:

• Persistent exposure to environmental infectious agents or toxins:

some studies indicate that lead can cause ALS in preferably older people. Exposure to lead or other chemicals in the workplace or during warfare may become the cause of ALS.

• Smoking:

Smoking is the greatest environmental risk factor for ALS to develop. It seems to be more common in women, especially after menopause.

• Military service:

certain studies show that people who have worked in the army are at a greater risk for developing ALS. it is unclear that army service might cause ALS. It might involve exposure to certain chemicals and metals and intense exertion.

• Traumatic injury

• Intense exercise:

athletes are at a greater risk for developing ALS

Diagnosis of Amyotrophic Lateral Sclerosis (ALS):

There is no single examination to diagnose ALS. your doctor may ask you for multiple physical tests to rule out other neurologic and muscle diseases. He may review your past medical and surgical history.

Tests to rule out other disorders might involve:

• Electromyogram (EMG):

Your doctor inserts a needle into your various muscle to check their electrical activity, when they are in a contraction state and when they are in a rest state. Abnormalities in EMG recording may assist physicists to diagnose ALS.

• Nerve conduction study:

This examination measures the ability of your nerves to send impulses to various muscles in the body. This test can diagnose if you have nerve impairment or muscle diseases.

• MRI:

A detailed image of the brain and spinal cord is formed using a strong magnetic field and radio waves. This test can also show brain tumors.

• Blood and urine tests:

These tests may be performed to eliminate the possibility of other diseases.

• Lumbar puncture test:

In this test, a needle is inserted into the spinal cord to take spinal fluid. That needle is inserted between two vertebrae in the lower back.

• Muscle biopsy:

If your doctor may believe that you have a muscle disease rather than ALS, he may order a muscle biopsy. Following local anesthesia, a small piece of your muscle is withdrawn and sent to the lab for further study.

Treatment of Amyotrophic Lateral Sclerosis (ALS):

There is no specific treatment to reverse the damage to motor neurons with ALS. however, some other treatment plans can prevent symptoms and complications.

Usually, a group of doctors can make your life easier. This team includes physicists, nutritionists, and physiotherapists.

Medications:

The FDA has approved many drugs to treat ALS symptoms.

• Riluzole:  (Rilutek) is an orally formulated drug used to reduce the damage to motor neurons by decreasing glutamate levels in CNS. Glutamate transports messages from brain nerve cells to motor neurons.

Shreds of evidence show that riluzole has improved survival time in people, especially in the bulbar form of ALS.

• Edaravone: (Radicava) is administered intravenously and slows the progressions of amyotrophic lateral sclerosis. Its side effects are:

1. Bruising
2. Shortness of breath
3. Headache

Your health care provider may also prescribe medications for the following signs and symptoms:

• Fatigue
• Constipation
• Muscle spasms
• Sleep problems
• Depression and anxiety
• Pain

Therapy:

• Physical therapy:

Physical therapy can raise the independence of an individual. The therapist address walking, pain, bracing, and mobility by practicing low impact workout. General low-impact exercises can strengthen your unused muscles and maintain your cardiovascular health.

Regular aerobic exercises may also improve your feeling of well-being. Appropriate stretching can also limit pain.

• Breathing support:

Eventually, you feel difficulty breathing as your muscles fail. Your doctor may perform some tests to determine breathing problems and may prescribe you a respiratory instrument.

He can choose mechanical ventilation depending upon the weakness of the muscles. Doctors insert a tube into your windpipe (tracheostomy) to assist you in breathing.

He may suggest non-invasive ventilation (NIV), in which oxygen is given through a mask over the mouth. NIV increases survival time and improves the quality of life.

• Speech therapy:

A speech therapist helps you acquire adaptive techniques to make your speech more satisfactory. They can also help you find more tools for better communication, such as a pen or board.

• Nutritional support:

Your doctor makes sure you are eating foods that are easier to swallow. Nutritionists can help you prepare small meals and avoid foods that are difficult to swallow.

When people are unable to swallow on their own, their doctors may recommend a    feeding tube.

• Psychological support:

Psychologists and social workers may help you and your family morally. Social workers may help you buy medications and certain tools.

Coping techniques for Amyotrophic Lateral Sclerosis (ALS):

Since ALS is a degenerative disease, the following tips may help you cope with this condition:

• Think about other things than your physical weakness
• Always be hopeful
• Take your time to mourn about your situation
• Join any support group to get some comfort
• Decide on your future medical treatment plans
• Keep your social contacts intact
• Always be practical
• Research about financial help

What do you expect from your doctor?

Your doctor will see your family history of ALS and your symptoms. He with your family may conduct physical and laboratory tests to give you proper medical care. These tests are:

• Muscle tone
• Strength
• Coordination
• Senses
• Body balance
• Body reflexes

Complications of Amyotrophic Lateral Sclerosis (ALS):

If left untreated, ALS may complicate previous symptoms.

• The progressive inability of doing daily actions
• Aspiration pneumonia
• Halt of movements
• Respiratory inability
• Complications that arose from being bedridden, including skin infections and ulcers.
• Pulmonary embolism and deep vein thrombosis are rare but are very dangerous