A Complete Guide To Understanding And Living With ALS


ALS is a rare, rapidly progressing neurodegenerative disease, affecting the brain and spinal cord. In the UK, five people every day are killed by the condition, usually within 14 months of initial diagnosis, and yet very little is known about it. This guide to understanding ALS looks at what causes the condition, how it progresses and what the future holds for ALS research.

ALS Explained

ALS is a neurodegenerative disorder which means it damages the nerve pathways within the body. The disease progresses rapidly, damaging the brain and spinal cord, affecting the nerves responsible for controlling body movement. Body movement is normally triggered by a message that begin’s in the brain’s motor cortex, then travels down the spine to the relevant part of the body. ALS damages these connections, so the messages are unable to travel throughout the body. As a result sufferers lose mobility in their arms and legs, have difficulty speaking and swallowing, and ultimately are unable to breath. The condition is fatal, often within 1-2 years of diagnosis. The disease is extremely rare. Based on US data, for a person with no family history of the disease the odds of developing ALS are between 1 and 3 in 100,000.

Lou Gehrig’s Disease

The condition was first labelled as de la sclerose laterale amyotrophique, by the French doctor who discovered it. In 1881 the term was translated into Amyotrophic Lateral Sclerosis shortened to ALS.

However, the disease received little public attention until Lou Gehrig, a US baseball legend, was diagnosed with it. Following a sudden drop in his performance at the start of the 1939 season, Gehrig sought medical attention at the Mayo Clinic in Rochester, Minnesota. He was diagnosed with ALS and died two years later in 1941.

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Lou Gehrig’s 4th of July Farewell Speech (video from YouTube)

Charcot Disease

Occasionally, although not often, ALS is referred to as Charcot Disease. This is after the French doctor Jean-Martin Charcot who first described ALS symptoms 1869.

Motor Neurone Disease

ALS is the most common motor neuron disease, and in the US the term ALS is used as an umbrella term to encompass all subset of motor neurone disease. In the UK the umbrella term used is known as Motor Neurone Disease, or MND.

ALS Signs And Symptoms

The first symptoms of ALS are outward signs of muscle weakness and atrophy such as pain, cramps, stiffness, incontinence, and difficulty speaking, eating or drinking. There may also be some changes in mental agility and behaviour.

How a patient is initially affected will depend on which motor neurons are first damaged by ALS. In almost 75% of cases, described as ‘limb onset’ ALS it is the arms or legs where symptoms are first noticed.

Almost 25% of patients have difficulty with speech or swallowing first. Their condition is described as ‘bulbar onset ALS’. A very small percentage of patients have ‘respiratory onset’ ALS which first affects the intercostal muscles integral to breathing.


A diagnosis of ALS is only made when the patient has symptoms of both upper and lower motor neuron damage, that is damage both above and below the anterior horn. This will be assessed by a specialist doctor through a regular neurological examinations.

The doctor will also look at the patient’s full medical history, and complete range of tests will be used to measure neurological activity within the brain and muscles to help exclude or indicate other potential causes.

What Causes ALS?

In approximately 90% of cases, there is no identifiable cause of ALS. In the remaining 10% of cases, the cause can be identified as a genetic mutation.

For the 90% of cases that do not have a familial history there have been a number of causes speculated, but no significant evidence found to support any one particular theory. Potential causes include drug use, head trauma, participation in contact sport, military service and eating food contaminated with blue-green algae.

How The Disease Develops

Mobility is one of the first noticeable symptoms of ALS.

ALS causes a rapid deterioration in health. After onset of the disease most patients die from respiratory failure within three to five years. Only 4% of patients living for more than 10 years. The exact progress of symptoms varies from person to person, although tends to follow a pattern of causing limited mobility, followed by respiratory difficulties.

As the disease causes damage throughout the brain and spinal cord the patient experiences loss of function in their limbs and trunk muscles due to muscle weakness and atrophy. Muscle weakness also affects the mouth and throat making speech and swallowing difficult. Towards the latter stages the intercostal muscles essential for breathing cease to function correctly.

Bladder and bowel function usually remain unaffected until the end of the disease, as are the muscles responsible for controlling eye movements.

For the majority of patients cognitive function remains unaffected, with only 5% developing frontotemporal dementia. As the autonomic nervous system and sensory nerves remain unaffected, most people with ALS are able to experience sight, sound, touch, taste and smell.

Progress of the disease is measured using the “ALS Functional Rating Scale Revised (ALSFRS-R)”, a patient-reported questionnaire or clinical interview or that produces a score indicating the current degree of disability.

Who Gets ALS?

  • People diagnosed with ALS tend to be aged between 40 and 70 years old, and are Caucasian.
  • 93% of the patients in the ALS CARE Database are Caucasian.
  • In younger patients the disease typically affects more men than women, but as age of diagnosis increases the ratio becomes more equal.
  • Studies in the United States have shown that military veterans, especially those deployed during the Gulf War are twice as likely to develop ALS.

Juvenile ALS

The term Juvenile ALS (JALS) is applied to cases diagnosed before age of 25 years. It is also known as early-onset ALS. The disease is extremely rare, making information the information about it sparse. A case of JALS is far more likely to have a familial cause than ALS, so research into treatment has tended to focus on genetics.

Cases have been reported among a number of different ethnic groups, whereas ALS diagnosed at a later age typically affects Caucasians. The average age of onset is just 6 1/2 years old, although the patient’s condition tends to deteriorate at a much slower pace than ALS. With the appropriate support, physical therapy and symptom alleviating medicines a patient diagnosed with JALS can have a fulfilling life for many years, and possibly decades.

Hidden Problems For Patients And Carers

There is currently no standard diagnostic test for ALS. Instead specialists monitor the progress of symptoms as they spread throughout the body. This limits the time patients and carers have to prepare for future care needs as by the time a diagnosis has been made, the disease may have already spread significantly.

After diagnosis patients require input from multiple specialists including respiratory experts, speech and language therapists and physiotherapists. Currently, these medical practitioners are spread across a number of geographic locations and the patient is required to travel between them for appointments. This negatively impacts their quality of life as their time is consumed with dealing with the disease. Studies have shown that co-ordinated care administered in multidisciplinary clinics has a positive impact on quality of life and can improve life expectancy.

The Ice Bucket Challenge

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Bill Gates does the Ice Bucket Challenge (video by TheGatesNotes)

In August 2014, a fundraising initiative known as the “ALS Ice Bucket Challenge” went viral across social media platforms. To complete the challenge the participant filled a bucket with ice and water, stated who nominated them to do the challenge, nominated three other people to do the challenge, then pours the bucket over their head. After completing the challenge the participant donated money to ALS research either at the ALS Association in the US, or Motor Neurone Disease Association in the UK. Those nominated can pay a higher donation to either charity to avoid the bucket of cold water, or film themselves completing the challenge and make their own nominations.

Participation in the challenge from prominent celebrities such as Roger Federer, George W. Bush, David Beckham and Cristiano Ronaldo helped raise the Ice Bucket Challenge reach a global audience.

As of August 25 donations to the ALS Association originating from the Ice Bucket Challenge had reached over $79 million, a phenomenal increase over the $2.5 million raised during the same period in 2013.

In the UK donations from the Ice Bucket challenge had raised over £3 million for MND Association as of August 22.

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Anthony Carpajal who was recently diagnosed with ALS at the age of 26 shares his thoughts of the Ice Bucket Challenge (video by Anthony Carbajal)

Treatment For ALS

There is currently no cure for ALS. Only one drug, Riluzole, has been shown to improve survival and is recommended by the National Institute for Clinical Excellence (NICE). The drug can lengthen survival by several months and extends the time before a person needs ventilation support, although it does not reverse existing damage to motor neurons. Evidence suggests it has a greater survival benefit for those with a bulbar onset ALS.

Other treatments for ALS are focused on improving the quality of life for patients.

Living With ALS

A range of specialists will be involved in the ongoing care of a patient, seeking to relieve symptoms and improve their quality of life. This supportive care is best delivered by multidisciplinary teams located in one specialist clinic, working alongside the patient’s caregivers.


Various medications are available to help with pain, discomfort, muscle spasticity and other symptoms triggered by ALS. Many patients also benefit from antidepressant treatment and sleeping medications.

Physical Therapist

Working with a physical therapist can help delay the loss of muscle strength, reduce pain, maintain endurance, and prolong independence. The physical therapist, or physiotherapist, will work with the patient to set goals and introduce a program of gentle, low-impact aerobic exercise. Walking, using an exercise bike, and swimming, for example, will all improve the patients well-being by strengthening unaffected muscles, promoting heart health and combating depression and fatigue. Motion and stretching exercises can help prevent the muscles from shortening (contracture) or tightening (spasticity) which can be painful.

Occupational Therapist

Occupational therapists are more concerned with maintain independence and providing exercises and equipment that will assist with everyday living. They can assess the patient’s needs and recommend equipment such as a walker, ramps, and bathroom equipment to help promote safety at home and retain as much independence in everyday living as possible.

Speech and Language Therapist

Initially a speech and language therapist can help an ALS patient adopt strategies to make themselves understood if they are struggling to speak clearly. As ALS progresses it may become necessary to use communication devices such as alphabet boards, yes/no signals, a voice amplifier and even speech-generating technology. Speech and language therapists are also experts on the swallowing mechanism enabling them to advise on suitable foods and liquids for the patient.

Food And Nutrition

Rapid weight loss is a common problem for ALS patients and should be combated by encouraging the consumption of as many calories as possible.

When chewing and swallowing becomes too difficult for the ALS patient, putting them at risk of choking and aspiration a feeding tube will be inserted into the stomach. A feeding tube may also be used to support patients who are still able to eat, but unable to consume enough calories to maintain their body weight. In these cases the patient can still eat and drink orally, even with the tube in situ.


Once the condition begins to affect the respiratory system a portable ventilator used to support breathing. These devices work by artificially inflating the lungs. They may be used intermittently at first but over time, as the patient’s body is no longer able to sustain oxygen levels the breathing support will be required full time.

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A short documentary about Mike Winston, who is living with ALS (video by Cheng Dong)

Research Progress

There are currently trials underway focused on three possible treatments for ALS.

Tirasemtiv works by selectively activating the proteins within the muscles (troponin complex), increasing the force of skeletal muscle contractions, and increasing the time before muscle fatigue sets in.

GlaxoSmithKline are sponsoring an international research project into the efficacy of an intravenous drug, Ozanezumab. Nogo-A is a protein that prevents motor neurons regenerating. People with motor neurone disease have higher levels of this protein. Ozanezumab is an antibody that works by mopping up these proteins to help limit the number of connections lost between motor neurons and muscles.

BrainStorm Cell Therapeutics in Israel are conducting research into the use of bone marrow stem cells. The patient’s own bone marrow stem cells are extracted, differentiated, then injected back into the muscles and the spine. Further research into this treatment is expected to begin in the United States, including at the Mayo Clinic, where Lou Gehrig received his diagnosis more than 70 years ago.

Professor Stephen Hawking

Possibly the most internationally recognised ALS patient of all time, Professor Stephen Hawking has defied all the odds by living with ALS for more than 50 years. Diagnosed at the age of 21, Hawking was not expected to live to his 25th birthday. The young age of diagnosis is thought to have been a factor in the relatively slow progress of his disease, as is the disease’s limited impact on his ability to breathe.

Outlook For ALS Patients

For those with a current diagnosis of ALS there is no cure available. Supportive care from a multi-disciplinary team of health professionals may lengthen survival time and optimise the quality of life possible. Research into a number of different treatments is well under way, but a curative treatment remains many years away.

Harold H. Rigby
Harold H. Rigby is a lifestyle blogger who's passionate about providing others with useful advice and tips on various health and mobility issues.