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Diff: Amyotrophic Lateral Sclerosis (ALS)

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'''Amyotrophic lateral sclerosis''' ('''ALS''') is the most common form of [[motor neurone disease]] ('''MND'''). It is a progressive neurological condition in which motor neurones in the brain and spinal cord stop working properly, leading to increasing muscle weakness.
Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's disease, is a progressive [[neurodegenerative disorder]] that primarily affects the motor neurons responsible for controlling voluntary muscle movement. It is characterised by the gradual loss of muscle function and eventual paralysis. ALS is a rare disease, with an estimated incidence of 2 to 3 cases per 100,000 individuals worldwide. While the exact cause of ALS remains unknown, a combination of genetic and environmental factors is believed to contribute to its development.
In the UK, the broader term motor neurone disease is often used, while ALS is common in North America and in medical literature. Oxford University Hospitals explains that nearly 90 percent of people with MND have the mixed ALS form, which is why the terms are often used interchangeably.
== Symptoms and Progression ==
The initial symptoms of ALS may vary among individuals, but commonly include muscle weakness, muscle twitching (fasciculations), cramps, and difficulty speaking, swallowing, or breathing. As the disease progresses, muscle atrophy becomes more pronounced, leading to increased disability and loss of independence. ALS does not typically impair cognitive function or impact the senses of sight, hearing, taste, or touch. However, some individuals may experience mild changes in cognitive abilities and behaviour.
== Terminology ==
Motor neurone disease is an umbrella term for several related conditions affecting motor neurones. ALS involves both upper motor neurones, which run from the brain down the spinal cord, and lower motor neurones, which supply muscles.
The term amyotrophic lateral sclerosis describes two features: muscle wasting from lower motor neurone damage and scarring of lateral motor pathways from upper motor neurone damage.
Other forms of MND include progressive bulbar palsy, progressive muscular atrophy, and primary lateral sclerosis. These categories describe patterns of involvement, but individual progression can still vary.
== Symptoms ==
Early symptoms may include:
* Weakness in the hands, arms, legs, or feet.
* Tripping, foot drop, or difficulty climbing stairs.
* Dropping objects or difficulty gripping.
* Muscle twitching, cramps, or stiffness.
* Slurred speech.
* Swallowing difficulty.
As ALS progresses, it may affect walking, arm function, speech, swallowing, breathing, saliva control, and communication. Some people also experience changes in mood, behaviour, or thinking.
== Diagnosis ==
ALS can be difficult to diagnose early because symptoms may resemble other neurological or muscular conditions. Assessment is usually led by a neurologist.
Tests may include neurological examination, blood tests, nerve conduction studies, electromyography, and MRI scans to exclude other causes. Diagnosis is based on the pattern of symptoms, examination findings, progression, and test results rather than one single test.
== Causes and Risk Factors ==
== Causes and Risk Factors ==
The exact cause of ALS is still not fully understood. In approximately 10% of cases, ALS is inherited (familial ALS), while the remaining 90% occur sporadically without any family history (sporadic ALS). Multiple genes have been implicated in familial ALS, including [[SOD1]], [[C9orf72]], [[TARDBP]], and [[FUS]], among others. However, the majority of sporadic ALS cases do not have a clear genetic basis. Environmental factors, such as exposure to certain toxins or viral infections, may also play a role in the development of ALS, although more research is needed to establish definitive causative links.
The cause is not fully understood. For most people, ALS appears to arise from a combination of genetic susceptibility and other factors. NHS material states that about 1 in 10 people with MND have a family history of the condition.
== Notable Examples ==
Several notable individuals have been affected by ALS, bringing awareness to the disease and highlighting the need for further research and support for patients and their families. Here are some notable examples:
Known genetic associations include changes in genes such as C9orf72, SOD1, TARDBP, and FUS, but many cases do not have an identified inherited cause.
=== 1. Lou Gehrig ===
Lou Gehrig, the renowned baseball player for the New York Yankees, is often associated with ALS due to his diagnosis in 1939. Gehrig's career was cut short by the disease, and he retired at the age of 36. His farewell speech, known as the "Luckiest Man on the Face of the Earth" speech, delivered on July 4, 1939, remains one of the most memorable moments in sports history. Gehrig's public battle with ALS helped raise awareness of the disease and its impact on individuals and their families.
== Treatment and Care ==
There is currently no cure for ALS. Treatment aims to slow progression where possible, manage symptoms, maintain communication and independence, support nutrition and breathing, and plan care around the person's priorities.
=== 2. Stephen Hawking ===
Renowned physicist Stephen Hawking was diagnosed with ALS at the age of 21. Despite the progressive nature of the disease, Hawking continued to make ground-breaking contributions to theoretical physics and cosmology, becoming one of the most influential scientists of his time. His ability to communicate through a speech-generating device and his resilience in the face of physical challenges made him an inspiration to many. Hawking passed away in 2018, leaving behind a legacy of scientific achievement and advocacy for individuals with disabilities.
Care is usually multidisciplinary. It may involve neurologists, specialist nurses, physiotherapists, occupational therapists, speech and language therapists, dietitians, respiratory teams, palliative care, psychologists, social care, and equipment services.
=== 3. Jason Becker ===
Jason Becker, a talented guitarist and composer, was diagnosed with ALS at the age of 20. Despite losing his ability to play guitar and his physical mobility, Becker continued to create music using eye-tracking technology and collaborated with other musicians. His story has touched the hearts of many, showcasing the power of creativity and determination in the face of adversity. Becker's contributions to the music industry and his advocacy for ALS research have made a lasting impact.
Riluzole may be offered for the ALS form of MND and can help slow progression. Other treatment is directed at symptoms such as cramps, stiffness, saliva, breathlessness, pain, anxiety, swallowing difficulty, communication problems, and respiratory weakness.
=== 4. O.J. Brigance ===
O.J. Brigance, a former professional football player for the Baltimore Ravens, was diagnosed with ALS in 2007. Despite his physical limitations, Brigance has become an advocate for ALS awareness and research. He co-founded the Brigance Brigade Foundation, which provides support and resources to individuals and families affected by ALS. Brigance's resilience and commitment to making a difference have inspired many in the ALS community.
== Breathing, Nutrition, and Communication ==
ALS can weaken breathing muscles. Non-invasive ventilation may be considered when respiratory weakness develops. It can improve symptoms and quality of life for some people.
== Research and Treatment ==
There is currently no cure for ALS, and available treatments aim to manage symptoms, slow disease progression, and improve quality of life. Riluzole and edaravone are two medications approved by the U.S. Food and Drug Administration (FDA) for the treatment of ALS. These drugs have shown modest effects in slowing the progression of the disease. Additionally, various supportive therapies, such as physical therapy, occupational therapy, and speech therapy, can help individuals manage symptoms and maintain functional abilities.
Swallowing difficulty can affect nutrition, hydration, and aspiration risk. Dietetic advice, texture changes, supplements, and feeding tube options may be discussed.
Ongoing research efforts are focused on understanding the underlying mechanisms of ALS, identifying potential biomarkers for early diagnosis, and developing targeted therapies. Gene therapy, stem cell therapy, and novel drug approaches are among the areas of active investigation. Collaborative initiatives and organisations dedicated to ALS research, such as the ALS Association and Project ALS, continue to drive progress in finding effective treatments and ultimately a cure for this devastating disease.
Speech may become weaker or less clear. Speech and language therapists can support voice banking, communication aids, swallowing assessment, and strategies for daily communication.
== See Also ==
== Prognosis ==
ALS is usually life-shortening, but the rate of progression varies widely. Some people deteriorate over months, while others live for many years. Prognosis depends on the pattern of disease, respiratory involvement, nutrition, age, general health, and response to supportive care.
* [[Lou Gehrig]]
* [[Stephen Hawking]]
* [[Neurodegenerative Diseases]]
* [[Motor Neuron Disease]]
* [[Genetic Disorders]]
== Notable People ==
Public awareness of ALS has been shaped by people such as Lou Gehrig, Stephen Hawking, Rob Burrow, and Doddie Weir. Their experiences are not typical of every case, but they helped bring attention to research, care, and support needs.
== References ==
* [https://www.nhs.uk/conditions/motor-neurone-disease/ NHS: Motor neurone disease]
* [https://www.nice.org.uk/guidance/ng42 NICE: Motor neurone disease assessment and management]
* [https://www.ouh.nhs.uk/services/departments/neurosciences/neurology/mnd/support/mnd-als/ Oxford University Hospitals NHS Foundation Trust: What is the difference between MND and ALS?]
* [https://www.nice.org.uk/guidance/ta20/documents/ta20-motor-neurone-disease-riluzole-guidance-html NICE: Riluzole for motor neurone disease]
[[Category:Neurology]]
[[Category:Medicine]]