Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons in the brain and spinal cord. This overview explores the definition, prevalence, symptoms, diagnostic process, and management of ALS. Understanding this complex condition is crucial for providing support and care to those affected.
Understanding ALS: An Overview
Definition and characteristics of ALS
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that affects motor neurons in the brain and spinal cord. This condition leads to muscle weakness, atrophy, and eventual paralysis[1]. ALS is characterized by the involvement of both upper and lower motor neurons, causing a unique combination of symptoms. The disease typically begins with unilateral limb weakness and progresses to involve other body regions in a predictable pattern[2].
While the exact cause remains unknown, various genetic and environmental factors have been implicated in its development. Only 5-10% of cases are familial, with the average age of onset being 64 years[3].
Prevalence and demographics
The global prevalence of ALS exhibits significant geographical variation. A meta-analysis revealed that the pooled standardized incidence of ALS was 1.68 per 100,000 person-years of follow-up (PYFU). North Europe demonstrated the highest standardized incidence at 1.89 per 100,000 PYFU, while East Asia and South Asia reported considerably lower rates[4].
Demographic factors play a crucial role in ALS prevalence, with age being a primary determinant. The number of individuals with ALS is projected to increase by nearly one-third from 80,162 in 2015 to 105,693 in 2040 across ten studied countries and regions. This surge is primarily attributed to population aging rather than overall population growth[5].
Impact on the nervous system
ALS profoundly impacts the nervous system, causing progressive degeneration of motor neurons in the brain and spinal cord. The hallmark of ALS is the simultaneous involvement of both upper and lower motor neurons, leading to a unique combination of symptoms[6].
Recognizing ALS: Early Symptoms and Signs
Muscle weakness and fatigue
Muscle weakness and fatigue are hallmark symptoms of ALS, significantly impacting daily lives. Fatigue, present in approximately 44.6% of those with ALS, is characterized by a sensation of weariness that is only partially relieved by rest and tends to worsen throughout the day[8].
As the disease progresses, muscle weakness becomes more pronounced, often starting in one limb and gradually spreading to other parts of the body. Individuals may experience difficulty with tasks such as walking, writing, or lifting objects[9].
At ALS United Greater Chicago, we understand the challenges posed by these symptoms. Our Adaptive Equipment program offers solutions to help maintain independence and quality of life as the disease progresses.
Twitching and cramping
Twitching and cramping are notable symptoms of ALS, though they may not always be the first signs noticed. Muscle twitching, also known as fasciculations, can occur in various parts of the body and is often accompanied by muscle cramping. These involuntary movements are caused by the degeneration of motor neurons, leading to the spontaneous firing of muscle fibers[10].
While occasional muscle twitches are common and usually benign, persistent fasciculations or cramps lasting for several weeks warrant medical attention, especially when accompanied by changes in muscle strength, coordination, or speech[11].
Changes in speech and swallowing
Changes in speech and swallowing are prominent features of ALS, particularly in those with bulbar onset. Approximately 30% experience these symptoms from the disease onset, with the majority developing them as the condition progresses[12].
Oropharyngeal dysphagia, a common manifestation, results from the degeneration of motor neurons controlling the tongue and upper aerodigestive tract muscles. This impairment significantly impacts the ability to communicate and maintain proper nutrition[13].
Progressive Nature of ALS Symptoms
Upper and lower motor neuron involvement
ALS uniquely affects both upper and lower motor neurons, resulting in a complex array of symptoms. Upper motor neuron degeneration manifests as spasticity, slowness of movement, poor balance, and incoordination. Conversely, lower motor neuron deterioration leads to muscle weakness, atrophy, and fasciculations[14].
Limb-onset vs. bulbar-onset ALS
ALS can be classified into two main types based on the initial site of symptom onset: limb-onset and bulbar-onset ALS. Limb-onset ALS, affecting approximately two-thirds of individuals, initially manifests symptoms in the arms, hands, legs, or feet[16].
Bulbar-onset ALS, affecting about one-third of individuals, initially impacts the bulbar muscles in the head and neck. These individuals often present with speech difficulties, trouble swallowing, or problems fully closing the mouth[17].
Diagnostic Process for ALS
Initial medical evaluation and history
The initial medical evaluation for ALS typically begins with a comprehensive neurological examination. A neurologist will conduct a detailed review of the family, work, and environmental history, looking for typical features of ALS such as muscle weakness, vocal changes, and alterations in mouth, tongue, chewing, and swallowing functions[18].
Following the neurological exam, a series of diagnostic tests are usually performed. These include electromyography (EMG) to evaluate nerve and muscle function, magnetic resonance imaging (MRI) to rule out conditions like spinal cord compression or tumors, and various blood and urine tests to exclude other diseases with similar symptoms[19].
Neurological examinations and tests
Neurological examinations and tests play a crucial role in diagnosing ALS. The process typically begins with a comprehensive neurological examination, where a neurologist conducts a detailed review of the family, work, and environmental history[20].
EMG is particularly important in the diagnostic process, as it can detect lesions of lower motor neurons even in clinically normal muscles. The Awaji-Shima criteria, which consider electrophysiological evidence of lower motor neuron lesions at the same level as clinical signs, have improved the sensitivity of ALS diagnosis, especially for individuals with bulbar signs[21].
Ruling out other conditions
Ruling out other conditions is crucial in diagnosing ALS, as several disorders can mimic its symptoms. Conditions such as multifocal motor neuropathy, inclusion body myositis, and cervical spondylotic myelopathy can present with similar symptoms[22].
Thorough clinical examination, electrophysiological studies, and neuroimaging are essential in differentiating these conditions from ALS and ensuring accurate diagnosis[23].
Living with ALS: Management and Support
Multidisciplinary care approach
Multidisciplinary care (MDC) has become the preferred model for managing ALS, offering a comprehensive approach that integrates various specialties to address complex needs. MDC teams typically include neurologists, pulmonologists, nutritionists, speech therapists, physiotherapists, and palliative care specialists, among others[24].
This collaborative approach has been associated with improved survival rates, with studies showing a survival benefit of approximately 4.6 months for those attending MDC clinics[25].
Assistive devices and adaptive equipment
Assistive devices and adaptive equipment play a crucial role in maintaining independence and quality of life for individuals with ALS. Mobility aids such as canes, walkers, and wheelchairs help people stay active and engaged in social activities[26].
Communication aids range from simple pen-and-paper solutions to high-tech eye-gaze software, allowing expression as speech difficulties progress. Bathroom adaptive devices, including arm rails, elevated toilet seats, and shower chairs, consistently rank highest in both frequency of use and satisfaction[27].
One of ALS United Greater Chicago’s most utilized programs, the Adaptive Equipment Lending Program provides items that assist with mobility and communication, improving the quality of life for those individuals living with ALS. It is through the generosity of many donors who have either donated equipment or funds to our organization that allows us to invest in much-needed equipment for those we serve.
Emotional and psychological support
Emotional and psychological support is crucial for individuals with ALS and their caregivers. A multidisciplinary approach involving psychologists, social workers, and spiritual counselors can address the complex needs of those affected by ALS[28].
Led by professionals, ALS United Greater Chicago’s resource and support groups provide opportunities for group members to share their personal experiences and to learn more about living with ALS. Participants learn that they are not alone nor without help or hope. Support group meetings are free and open to all people living with ALS and their caregivers. Support groups sometimes feature speakers on relevant topics and are designed to share information as well as strategies for preserving the independence and quality of life of both people living with ALS and their caregivers.
Conclusion
Understanding ALS is crucial for providing effective support and care to those affected by this challenging condition. At ALS United Greater Chicago, we are committed to supporting individuals and families navigating the complexities of ALS. Our comprehensive care services, research funding, and advocacy efforts aim to improve the lives of those affected by ALS in the Greater Chicago area.
Donate Now to support our mission and help us continue providing vital services to the ALS community.
- ALS is a progressive neurodegenerative disorder affecting motor neurons in the brain and spinal cord.
- Early symptoms include muscle weakness, fatigue, twitching, and changes in speech and swallowing.
- Diagnosis involves comprehensive neurological examinations and tests to rule out other conditions.
- A multidisciplinary care approach is crucial for managing ALS and improving quality of life.
- Emotional and psychological support is essential for both individuals with ALS and their caregivers.
- Mayo Clinic. (n.d.). Amyotrophic lateral sclerosis (ALS).
- Ghasemi, M. (2022). Amyotrophic Lateral Sclerosis. In StatPearls. StatPearls Publishing.
- National Institute of Neurological Disorders and Stroke. (n.d.). Amyotrophic Lateral Sclerosis (ALS) Fact Sheet.
- Xu, L., Liu, T., Liu, L., Yao, X., Chen, L., Fan, D., … & Cui, L. (2020). Global variation in prevalence and incidence of amyotrophic lateral sclerosis: a systematic review and meta-analysis. Journal of Neurology, 267(4), 944-953.
- Xu, L., Liu, T., Liu, L., Yao, X., Chen, L., Fan, D., … & Cui, L. (2020). Global variation in prevalence and incidence of amyotrophic lateral sclerosis: a systematic review and meta-analysis. Journal of Neurology, 267(4), 944-953.
- Ghasemi, M. (2022). Amyotrophic Lateral Sclerosis. In StatPearls. StatPearls Publishing.
- Ghasemi, M. (2022). Amyotrophic Lateral Sclerosis. In StatPearls. StatPearls Publishing.
- Giordano, A., Godi, C., Volanti, P., Corbo, M., Colombo, R., Falcone, C., … & Chio, A. (2022). Fatigue in amyotrophic lateral sclerosis: prevalence, associated factors and impact on quality of life. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24(1-2), 102-110.
- Mayo Clinic. (n.d.). Amyotrophic lateral sclerosis (ALS).
- Mayo Clinic. (n.d.). Amyotrophic lateral sclerosis (ALS).
- Mayo Clinic. (n.d.). Amyotrophic lateral sclerosis (ALS).
- Onesti, E., Schettino, I., Gori, M. C., Frasca, V., Ceccanti, M., Cambieri, C., … & Inghilleri, M. (2021). Dysphagia in Amyotrophic Lateral Sclerosis: Impact on Patient Behavior, Diet Adaptation, and Riluzole Management. Frontiers in Neurology, 12, 619.|
- Onesti, E., Schettino, I., Gori, M. C., Frasca, V., Ceccanti, M., Cambieri, C., … & Inghilleri, M. (2021). Dysphagia in Amyotrophic Lateral Sclerosis: Impact on Patient Behavior, Diet Adaptation, and Riluzole Management. Frontiers in Neurology, 12, 619.
- Ghasemi, M. (2022). Amyotrophic Lateral Sclerosis. In StatPearls. StatPearls Publishing.
- Ghasemi, M. (2022). Amyotrophic Lateral Sclerosis. In StatPearls. StatPearls Publishing.
- ALS News Today. (n.d.). Forms of ALS.
- ALS News Today. (n.d.). Forms of ALS.
- Massachusetts General Hospital. (n.d.). Diagnosing ALS.
- Mayo Clinic. (n.d.). ALS diagnosis and treatment.
- Massachusetts General Hospital. (n.d.). Diagnosing ALS.
- Onesti, E., Schettino, I., Gori, M. C., Frasca, V., Ceccanti, M., Cambieri, C., … & Inghilleri, M. (2021). Dysphagia in Amyotrophic Lateral Sclerosis: Impact on Patient Behavior, Diet Adaptation, and Riluzole Management. Frontiers in Neurology, 12, 619.
- Medscape. (n.d.). Amyotrophic Lateral Sclerosis Differential Diagnoses.
- Geevasinga, N., Menon, P., Howells, J., Yiannikas, C., Kiernan, M. C., & Vucic, S. (2023). Diagnostic utility of threshold tracking transcranial magnetic stimulation in amyotrophic lateral sclerosis. Clinical Neurophysiology Practice, 8, 77-84.
- Hogden, A., Foley, G., Henderson, R. D., James, N., & Aoun, S. M. (2017). Amyotrophic lateral sclerosis: improving care with a multidisciplinary approach. Journal of Multidisciplinary Healthcare, 10, 205-215.
- Hogden, A., Foley, G., Henderson, R. D., James, N., & Aoun, S. M. (2017). Amyotrophic lateral sclerosis: improving care with a multidisciplinary approach. Journal of Multidisciplinary Healthcare, 10, 205-215.
- ALS News Today. (n.d.). Aids and Adaptations.
- Gruis, K. L., Wren, P. A., & Huggins, J. E. (2011). Amyotrophic lateral sclerosis patients’ self-reported satisfaction with assistive technology. Muscle & Nerve, 43(5), 643-647.
- ALS/MND Alliance. (n.d.). Mental Health Support.
- Massachusetts General Hospital. (n.d.). Resilient Together: ALS.