Amyotrophic Lateral Sclerosis (ALS)

What is amyotrophic lateral sclerosis (ALS)?

Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s Disease (named after Henry Louis Gehrig was was an American professional baseball player), is a fatal nervous system disease. In ALS, upper motor neurons and lower motor neurons gradually degenerate and die, leading to a loss of muscle function and control. Motor neurons are nerve cells that control voluntary muscle movements.

As ALS progresses over time, its impact on motor function becomes more severe. ALS affects various areas of the body, including arms, legs, speech muscles and breathing muscles. This progressive muscle weakness makes it increasingly difficult for individuals with ALS to move around or perform daily activities. Eventually, some people may end up requiring a feeding tube, to replace eating foods through the mouth.

While researchers have yet to identify specific causes of ALS as it varies from person to person but some studies suggest that problems with certain genes might play a role in developing this disease. Brain abnormalities may also be linked to the development of this disorder.

What is the definition of amyotrophic lateral sclerosis (ALS)?

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurological disorder that affects nerve cells in the brain, brainstem and spinal cord. The term “amyotrophic” refers to muscle atrophy, or wasting away of muscles, while “lateral sclerosis” refers to the hardening of areas on the sides of the spinal cord. ALS is also known as motor neuron disease (MND), which encompasses various forms of degenerative diseases affecting motor neurons.

Diagnosis for ALS typically includes clinical observations such as reduced muscle strength, spasticity, and difficulty with speech or swallowing. Electromyography (EMG) tests may be conducted to measure electrical activity in muscles and determine if there has been damage to nerve cells. Magnetic resonance imaging (MRI) scans can help rule out other conditions that may have similar symptoms.

It’s important to clarify that MND and ALS are not interchangeable terms despite being used interchangeably at times by healthcare professionals. MND is an umbrella term that covers several conditions characterized by gradual degeneration and cell death of motor neurons in both upper and lower regions whereas ALS specifically targets only these two areas leading eventually loss of control over voluntary movement causing patients’ inability breathe or move independently without assistance from others.

What are the different types of amyotrophic lateral sclerosis (ALS)?

Amyotrophic Lateral Sclerosis (ALS) typically appears in two primary forms:

Sporadic ALS (sALS)

This is the most common form, accounting for about 90 to 95 percent of all cases. The cause of sporadic ALS is unknown, and it occurs randomly without any clear associated risk factors. It can affect anyone, regardless of race, ethnicity, or geographical location.

Familial ALS (fALS)

This form accounts for approximately 5 to 10 percent of all cases and occurs when ALS is inherited from a parent due to a gene mutations. People with familial ALS are often found to have mutations in specific genes such as SOD1, C9ORF72, TARDBP, and FUS.

Each of these types of ALS can also be categorized by the initial symptoms and affected areas:

• Limb-Onset ALS: This form of ALS is characterized by the first symptoms appearing in the arms or legs. It’s the most common form of the disease
• Bulbar-Onset ALS: In this form of ALS, the initial symptoms appear in the muscles that control speech and swallowing (bulbar muscles)

What are the symptoms and clinical presentation of Amyotrophic Lateral Sclerosis (ALS)?

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that primarily affects motor neurons, which are nerve cells in the brain, brainstem and spinal cord that control muscle movement. Symptoms of ALS can vary greatly from person to person, depending on which neurons are affected. Some people may experience symptoms in specific parts of their body, while others might experience more widespread symptoms. Common symptoms of ALS include:

Muscle Weakness

This usually begins in one part of the body, such as the arm or leg, and gradually spreads to other parts. It can lead to difficulty in walking, climbing stairs, lifting objects, or performing other routine activities.

Muscle Twitching (Fasciculations)

Many people with ALS experience uncontrollable twitching in their arms, legs, shoulders, or tongue.

Muscle Cramps

These are often one of the early symptoms of the disease.

Speech Difficulties (Dysarthria)

As ALS progresses, it can affect the muscles involved in speech, leading to slow or slurred speech.

Difficulty Swallowing (Dysphagia)

When the muscles involved in swallowing are affected, it can lead to choking, excessive drooling, or difficulty eating.

Breathing Problems

As the disease affects the muscles involved in breathing, people with ALS may experience shortness of breath, difficulty breathing, or respiratory failure in the later stages of the disease.

Emotional Lability (Pseudobulbar Affect)

Some people with ALS may experience episodes of uncontrollable laughing or crying, a condition known as pseudo-bulbar effect.

In some cases, people with ALS may also experience cognitive impairment and behavioral changes, such as difficulties with memory, concentration, decision-making, or changes in personality and behavior.

What are the causes and risk factors associated with amyotrophic lateral sclerosis (ALS)?

Genetic inheritance or family history is a major cause of amyotrophic lateral sclerosis (ALS), with mutations in the SOD1, C9orf72 and FUS genes being most frequently associated. This is called familial ALS. Exposure to environmental toxins has also been identified as a potential contributing factor for ALS. Research shows that certain pesticides and heavy metals may increase the risk of developing this disease, due to their neurotoxic effects on brain cells.

Age, gender, and race/ethnicity have been found to play a role in the development of ALS. Men are more likely than women to develop this disease, while individuals over age 60 are at higher risk compared to younger adults. Additionally, studies suggest that Caucasians are more likely than other racial or ethnic groups to be diagnosed with ALS. Despite ongoing research into these causes and risk factors associated with ALS, many questions remain unanswered about this complex neurological disorder.

How is amyotrophic lateral sclerosis (ALS) diagnosed?

To accurately diagnose Amyotrophic Lateral Sclerosis (ALS), neurology specialists use a process of elimination to rule out other conditions that may mimic its symptoms. Various tests are then used to confirm the diagnosis, including Magnetic Resonance Imaging (MRI) scans, Electromyography/Nerve Conduction Studies (EMG/NCS) and muscle biopsy. These tests help detect any damage or abnormalities in the nerves and muscles, particularly those located in the spinal cord and limbs.

A possible ALS diagnosis means that there is evidence of certain clinical features but not enough to meet all diagnostic criteria. A probable ALS diagnosis means that there is enough evidence of clinical features to meet some but not all diagnostic criteria. Receiving a definite ALS diagnosis requires meeting specific diagnostic criteria established by healthcare professionals based on extensive research into this debilitating disease.

Genetic testing in amyotrophic lateral sclerosis (ALS)?

Genetic testing in people with Amyotrophic Lateral Sclerosis (ALS) can provide several benefits:

Identification of Familial ALS

Genetic testing can confirm the diagnosis of familial ALS (fALS) in a patient. This can provide clarity for patients and families and help physicians to make more accurate prognoses and treatment plans.

Risk Assessment for Family Members

If a patient is diagnosed with familial ALS, their biological relatives have an increased risk of developing the disease. Genetic testing can help these relatives understand their risk and make informed decisions about their health.

Potential for Targeted Therapy

Some forms of ALS are caused by specific genetic mutations that may be targeted by new treatments. Genetic testing can identify these mutations and potentially guide treatment decisions.

Participation in Clinical Trials

Identification of a genetic mutation may qualify a patient for participation in clinical trials for new treatments specific to their type of ALS.

Better Understanding of Disease

Understanding the genetic factors that contribute to ALS can provide insights into the mechanisms of the disease, which could lead to the development of new treatments.

Prenatal and Preimplantation Genetic Diagnosis

For individuals with familial ALS who are planning to have children, genetic testing can provide options for prenatal testing and preimplantation genetic diagnosis.

What medications are used to treat amyotrophic lateral sclerosis (ALS)?

“Rilutek” (Riluzole) is an FDA approved medication used to treat Amyotrophic Lateral Sclerosis (ALS). It works by decreasing the release of glutamate, which can be toxic to nerve cells in the brain and spinal cord. Riluzole has been shown to modestly slow down the progression of ALS and increase survival time by several months.

In addition to riluzole, there are other drugs that may treat ALS symptoms such as muscle stiffness, cramps, or spasticity. These include baclofen, tizanidine, and gabapentin among others. However, these medications do not affect the underlying causes of ALS and only provide symptomatic relief.

Newer drugs like Edaravone (Radicava), which is an antioxidant drug halts the progression of ALS in the early stages through its cytoprotective effect

Complementary therapies such as physical therapy or occupational therapy can also help manage certain aspects of living with ALS. Additionally, some studies suggest that alternative therapies like acupuncture may improve quality of life for people with this condition.

What support organizations are available for people living with ALS in the US?

• The ALS Association: The ALS Association is an american organization that provides support groups, resources, research, and advocacy for those affected by ALS
• Muscular Dystrophy Association (MDA): MDA supports people affected by muscular diseases, including ALS. They offer a wide range of services such as clinics, support groups, and summer camps
• Project ALS: Project ALS identifies and funds the most promising scientific research that will lead to the first effective treatments and a cure for ALS
• ALS Therapy Development Institute: This is a nonprofit biotech organization that’s developing treatments for ALS
• ALS Finding a Cure: They are dedicated to funding research aimed at finding a cure for ALS
• Team Gleason: Founded by former NFL player Steve Gleason who is living with ALS. Team Gleason provides technology, equipment, and services to individuals with neuromuscular diseases or injuries
• The Robert Packard Center for ALS Research at Johns Hopkins: They focus on innovative research for ALS
• ALS Guardian Angels: This organization helps to meet the immediate needs of patients with ALS and their families
• Augie’s Quest: Named after Augie Nieto, a prominent fitness industry leader diagnosed with ALS in 2005, the foundation raises funds specifically for ALS drug development
• The Les Turner ALS Foundation: The foundation offers a full spectrum of care and resources for people living with ALS in the Chicago area
• National Institute of Neurological Disorders and Stroke
• Amyotrophic lateral sclerosis (ALS)

What support organizations are available for people living with ALS in the UK?

• The Motor Neurone Disease Association: This is the main organization in the UK supporting people affected by MND, their families, and carers. They provide information, advice, resources and also fund and promote research
• MND Scotland: MND Scotland is the leading charity in Scotland providing care and support to people affected by Motor Neurone Disease (MND), as well as funding vital research into finding a cure
• The National Institute for Health and Care Excellence (NICE): NICE provides guidelines for healthcare professionals treating people with MND in the UK. While not a support organization, they provide useful resources and information
• Dying Matters: This is a coalition across England and Wales, which aims to help people talk more openly about dying, death and bereavement, and to make plans for end of life.
• Carers UK: They make life better for caregivers by providing advice, information and support
• The Jennifer Trust for Spinal Muscular Atrophy: While primarily focused on Spinal Muscular Atrophy, they also offer support for other motor neuron diseases
• Rare Disease UK: They provide a united voice for the rare disease community by capturing the experiences of patients and families

Summary

Key takeaway points on understanding ALS: Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. It leads to muscle weakness, difficulty speaking, swallowing, and breathing.

There is no cure for ALS, but various treatments can help manage symptoms and improve quality of life. Patients may experience physical limitations as the disease progresses but can benefit from support groups and assistive devices.

As the disease progresses,  there is a loss of use of limbs, dysarthria and dysphagia, and the most common cause of death is from respiratory failure.

Importance of advocating for patient rights and research funding: Advocacy efforts are crucial in raising awareness about the impact of ALS on patients’ lives, promoting access to care resources. Research funding plays an important role in developing new treatments that target the underlying causes of the disease.