ALS and the ice bucket challenge

The current craze among political personalities and well-known celebrities   the so-called “ice bucket challenge”  has brought into focus a little-known neurological disorder called ALS, an acronym for Amyotrophic Lateral Sclerosis. It is also known in the US as Lou Gehrig’s Disease, to honor a famous American baseball player who was diagnosed and died from this disorder. A progressive condition with no known cure, the ice bucket challenge was launched precisely to raise awareness and to fund research to find a cure for this disease.

“Amyotrophic” comes from the Greek language. “A” means no, none or negative. “Myo” refers to muscle, and “trophic” means nourishment, so, “No muscle nourishment.” When the muscle has no nourishment, it “atrophies” or wastes away. “Lateral” identifies the location in the patient’s spinal cord where portions of the nerve cells that signal and control the muscles are located. As this area degenerates, it leads to scarring or hardening (“sclerosis”) in the region. Thus, the name Amyotrophic Lateral Sclerosis.

ALS is a progressive neurodegenerative disease that affects the nerve cells in the brain and spinal cord. Motor neurons from the brain go to the spinal cord and to the muscles throughout the body. The progressive degeneration of the motor neurons due to ALS eventually results in death. When motor neurons die, the ability of the brain to initiate and control muscle movement is lost and, eventually, the patients become paralyzed.

Although the cause of ALS is not completely understood, recent years have brought a wealth of new scientific understanding of the physiology of the disease. While there is not a cure or treatment today that halts or reverses ALS, there is one FDA-approved drug, Riluzole, that modestly slows the progression of ALS, as well as several other drugs in clinical trials that hold promise.

Facts you should know about ALS

Here are important facts you should know about ALS:

• ALS is not contagious.

• It is estimated that in the US, ALS is responsible for two deaths per 100,000 population annually.

• Approximately 5,600 people in the US are diagnosed with ALS each year. The incidence of ALS is two per 100,000 people, and it is estimated that as many as 30,000 Americans may have the disease at any given time. In the Philippines, it appears that the incidence of ALS is much lower.

• Although life expectancy of an ALS patient averages about two to five years from the time of diagnosis, the disease is variable, and many people live for five years or more. More than half of all patients live more than three years after diagnosis. In the Philippines, ALS generally follows a more benign clinical course.

• About 20 percent of people with ALS live five years or more and up to 10 percent will survive more than 10 years and five percent will live 20 years. There are people in whom ALS has stopped progressing and a small number of people in whom the symptoms of ALS reversed.

• ALS occurs throughout the world with no racial, ethnic or socioeconomic boundaries.

• ALS can strike anyone.

Symptoms of ALS

The onset of ALS is insidious, with muscle weakness or stiffness as early symptoms. Progression of weakness, wasting and paralysis or the muscles of the limbs and trunk, as well as those that control vital functions, such as speech, swallowing and later breathing, generally follows. Early signs and symptoms of ALS include:

• Difficulty walking, tripping or difficulty doing normal daily activities.

• Weakness in the legs, feet and 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.

The disease frequently begins in the hands, feet or limbs, and then spreads to other parts of the body. As the disease advances, the muscles become progressively weaker. This weakness eventually affects chewing, swallowing, speaking and breathing. However, ALS doesn’t usually affect bowel or bladder control, the senses, or the patient’s thinking ability. It is possible for ALS patients to remain actively involve with family and friends.

Diagnosis

ALS is a very difficult disease to diagnose. To date, there is no one test or procedure to definitely establish its diagnosis. It is through a clinical examination and series of diagnostic tests, often ruling out other diseases that mimic ALS, that a diagnosis can be established. A comprehensive diagnostic workup includes most, if not all, of the following procedures:

• Electrodiagnostic tests, including electromyography (EMG) and nerve conduction velocity (NCV).

• Blood and urine studies, including high-resolution serum protein electrophoresis, thyroid and parathyroid hormone levels, and 24-hour urine collection for heavy metals.

• Spinal tap.

• X-rays, including magnetic resonance imaging (MRI).

• Muscle and/or nerve biopsy.

• Thorough neurological examination.

These tests are done at the discretion of the physician, usually based on the result of other diagnostic tests and the physical examination.  There are several diseases that have some of the same symptoms as ALS and most of these conditions are treatable.

Treatment

Because there’s no reversing the cause of ALS, treatments focus on slowing the progression of symptoms, preventing unnecessary complications and making the patient more comfortable and independent.

The drug riluzole (Rilutek) is the only drug approved by the US FDA. The drug appears to slow the disease’s progression in some people, perhaps by reducing the levels of a chemical messenger in the brain (glutamate) that’s often present in higher levels in people with ALS.

Physicians may also prescribe meds to provide relief from other symptoms such as muscle cramps and spasms, spasticity, constipation, fatigue, excessive salivation, excessive phlegm, pain depression, sleep problems, and others.  Other treatments include:

• Breathing care. Over time, patients will have more difficulty breathing as their muscles become weaker. Doctors may test the patients breathing regularly and provide them with devices to assists their breathing at night. In some cases, breathing by mechanical ventilation may be necessary.

• Physical therapy. A physical therapist can address pain, walking, mobility, bracing and equipment needs that will help in maintaining the patient’s independence. Some measures include low-impact exercises to maintain cardiovascular fitness, muscle strength and joint range of motion, for as long as possible.

• Occupational therapy. An occupational therapist can help the patients compensate for hand and arm weakness in a manner that helps them keep their independence for as long as possible. Adaptive equipment can help them continue to perform daily activities such as dressing, grooming, eating and bathing.

• Speech therapy. Because ALS affects the muscles patients use to speak, communication becomes an issue as the disease progresses. A speech therapist can teach patients adaptive techniques to make their speech more clearly understood. Speech therapists can also help them explore other methods of communication, such as an alphabet board, iPad, or a simple pen and paper.

• Nutritional support. Nutritionists can work with patients and their family members to ensure they are eating foods that are easier to swallow and meet their nutritional needs. The patients may eventually need a feeding tube.

• Psychological and social support. A psychologist and social worker may provide emotional support to the patients and their families. Generally, patients should be advised to take time to grieve but be hopeful, and think beyond the physical changes. Many people with ALS lead rich, rewarding lives despite physical limitations. They should be taught to think of ALS as only one part of their lives, not their entire identity!

The Ice bucket challenge: Success!

This viral fundraising campaign for ALS has now raised about $100 million, which has put the ALS Association into the top ranks of medical charity donations. The unexpected success of this campaign has surprised even the ALS Association itself. Last year, from July to August, it raised just $2.6 million. This year, since the end of July, the donations have been coming in at about $9 million per week.

“I think even if I or any person at either a non-profit or a for-profit company has all the PR dollars in the world to invest, no one would have come up with this idea,” says Carrie Munk, spokesperson for the ALS Association. “We realize there are responsibilities that come with being good stewards of these dollars.”

It is certainly hoped that the Association will spend this money wisely for the sake of all the people who suffer from ALS all over the world.

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Sources: mayoclinic.org/diseases-conditions/ALS; alsa.org ninds.nih.gov/disorders/ amyotrophiclateralsclerosis/ALS.htm; www.LouGehrig.com; and abcnews.go.com.