Lateral Sclerosis
Disease Details
Family Health Simplified
- Description
- Lateral sclerosis refers to a condition characterized by progressive degeneration of the nerve cells controlling voluntary muscles, often manifesting in forms such as Amyotrophic Lateral Sclerosis (ALS).
- Type
- Lateral sclerosis, specifically referring to Amyotrophic Lateral Sclerosis (ALS), is a type of neurodegenerative disease. The type of genetic transmission can vary; it can occur sporadically or be inherited in a familial form. The familial form is generally transmitted in an autosomal dominant pattern, although other patterns like autosomal recessive and X-linked dominant have also been reported less frequently.
- Signs And Symptoms
- The disorder causes muscle weakness, atrophy, and muscle spasms throughout the body due to the degeneration of the upper motor and lower motor neurons. Sensory nerves and the autonomic nervous system are generally unaffected, meaning the majority of people with ALS maintain hearing, sight, touch, smell, and taste.
- Prognosis
- Lateral sclerosis, often referring to amyotrophic lateral sclerosis (ALS), has a variable prognosis. The typical progression of ALS leads to increasing muscle weakness, disability, and eventually respiratory failure. The average life expectancy following diagnosis is about 2 to 5 years, though some people may live longer, particularly with supportive care.
- Onset
- For lateral sclerosis, often referred to as Amyotrophic Lateral Sclerosis (ALS), the onset typically occurs in individuals between the ages of 40 and 70. There is no specific nanotechnology application currently recognized for ALS in standard treatments or diagnostics as of now.
- Prevalence
- The prevalence of amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease or motor neuron disease, is approximately 2 to 5 per 100,000 people worldwide.
- Epidemiology
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ALS is the most common motor neuron disease in adults and the third most common neurodegenerative disease after Alzheimer's disease and Parkinson's disease. Worldwide the number of people who develop ALS yearly is estimated to be 1.9 people per 100,000 per year, while the number of people who have ALS at any given time is estimated to be about 4.5 people per 100,000. In Europe, the number of new cases a year is about 2.6 people per 100,000, while the number affected is 7–9 people per 100,000. The lifetime risk of developing ALS is 1:350 for European men and 1:400 for European women. Men have a higher risk mainly because spinal-onset ALS is more common in men than women. The number of those with ALS in the United States in 2015 was 5.2 people per 100,000, and was higher in whites, males, and people over 60 years old. The number of new cases is about 0.8 people per 100,000 per year in east Asia and about 0.7 people per 100,000 per year in south Asia. About 80% of ALS epidemiology studies have been conducted in Europe and the United States, mostly in people of northern European descent. There is not enough information to determine the rates of ALS in much of the world, including Africa, parts of Asia, India, Russia, and South America. There are several geographic clusters in the Western Pacific where the prevalence of ALS was reported to be 50–100 times higher than the rest of the world, including Guam, the Kii Peninsula of Japan, and Western New Guinea. The incidence in these areas has decreased since the 1960s; the cause remains unknown.
People of all races and ethnic backgrounds may be affected by ALS, but it is more common in whites than in Africans, Asians, or Hispanics. In the United States in 2015, the prevalence of ALS in whites was 5.4 people per 100,000, while the prevalence in blacks was 2.3 people per 100,000. The Midwest had the highest prevalence of the four US Census regions with 5.5 people per 100,000, followed by the Northeast (5.1), the South (4.7), and the West (4.4). The Midwest and Northeast likely had a higher prevalence of ALS because they have a higher proportion of whites than the South and West. Ethnically mixed populations may be at a lower risk of developing ALS; a study in Cuba found that people of mixed ancestry were less likely to die from ALS than whites or blacks. There are also differences in the genetics of ALS between different ethnic groups; the most common ALS gene in Europe is C9orf72, followed by SOD1, TARDBP, and FUS, while the most common ALS gene in Asia is SOD1, followed by FUS, C9orf72, and TARDBP.ALS can affect people at any age, but the peak incidence is between 50 and 75 years and decreases dramatically after 80 years. The reason for the decreased incidence in the elderly is unclear. One thought is that people who survive into their 80s may not be genetically susceptible to developing ALS; alternatively, ALS in the elderly might go undiagnosed because of comorbidities (other diseases they have), difficulty seeing a neurologist, or dying quickly from an aggressive form of ALS. In the United States in 2015, the lowest prevalence was in the 18–39 age group, while the highest prevalence was in the 70–79 age group. Sporadic ALS usually starts around the ages of 58 to 63 years, while genetic ALS starts earlier, usually around 47 to 52 years. The number of ALS cases worldwide is projected to increase from 222,801 in 2015 to 376,674 in 2040, an increase of 69%. This will largely be due to the aging of the world's population, especially in developing countries. - Intractability
- Lateral sclerosis, more commonly referred to as Amyotrophic Lateral Sclerosis (ALS), is currently considered intractable. There is no cure for ALS, and treatment mainly focuses on managing symptoms and improving quality of life. The disease involves progressive degeneration of motor neurons, which leads to muscle weakness and atrophy. Despite extensive research, therapeutic options are limited and primarily aim to slow disease progression and alleviate symptoms.
- Disease Severity
- Lateral sclerosis, often referred to as Amyotrophic Lateral Sclerosis (ALS), is a progressive neurodegenerative disease. The severity of ALS varies among individuals but tends to worsen over time. Patients typically experience muscle weakness, atrophy, and eventually paralysis, impacting their ability to move, speak, swallow, and breathe. The progression typically leads to a significant reduction in life expectancy, with many patients surviving only 3 to 5 years after diagnosis, although some may live longer. The impact on quality of life is severe due to the loss of motor functions and the need for extensive medical and supportive care.
- Healthcare Professionals
- Disease Ontology ID - DOID:230
- Pathophysiology
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Lateral sclerosis, more commonly referred to as Amyotrophic Lateral Sclerosis (ALS), is a neurodegenerative disease.
**Pathophysiology:**
1. **Motor Neuron Degeneration:** ALS primarily affects the upper motor neurons (in the brain) and lower motor neurons (in the spinal cord). There is progressive degeneration and death of these neurons.
2. **Muscle Atrophy:** As motor neurons die, their ability to send signals to muscles is impaired, leading to muscle weakness and atrophy.
3. **Glutamate Toxicity:** Excessive glutamate can cause excitotoxicity, damaging neurons.
4. **Protein Aggregates and Cell Death:** Abnormal protein aggregates form in affected neurons, contributing to cellular dysfunction and apoptosis.
5. **Mitochondrial Dysfunction:** Mitochondrial abnormalities may lead to impaired energy production and increased oxidative stress.
**Nan:**
The term "nan" appears to be out of context here and does not directly relate to the medical condition of lateral sclerosis.
If you have more specific aspects or details you need information on, please let me know. - Carrier Status
- Lateral sclerosis, often referred to in the context of Amyotrophic Lateral Sclerosis (ALS), does not have a straightforward carrier status because it is typically not inherited in a simple recessive or dominant pattern. Most ALS cases are sporadic, meaning they occur without a clear family history. However, in familial ALS (FALS), which accounts for about 10% of cases, mutations in several genes such as SOD1, C9orf72, and others can be involved. Carrier status is more relevant in the context of these specific gene mutations, which can sometimes follow autosomal dominant inheritance with incomplete penetrance.
- Mechanism
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Lateral sclerosis, often referred to as Amyotrophic Lateral Sclerosis (ALS), primarily involves the degeneration of motor neurons in the brain and spinal cord. This leads to progressive muscle weakness and atrophy.
**Mechanism:**
The primary hallmark of ALS is the selective loss of motor neurons, which are responsible for controlling voluntary muscles. As these motor neurons degenerate and die, they cease to send messages to the muscles, leading to muscle weakness, twitching (fasciculations), and eventually, muscle atrophy. This loss of voluntary muscle control can affect critical functions such as speaking, swallowing, and breathing.
**Molecular Mechanisms:**
1. **Genetic Mutations:** Several gene mutations have been linked to ALS, including SOD1, C9orf72, TDP-43, and FUS. These mutations can lead to dysfunctional proteins that contribute to neuronal degeneration.
2. **Protein Aggregates:** Abnormal aggregation of proteins like TDP-43 and FUS is commonly observed in ALS patients. These protein aggregates can disrupt normal cellular function and contribute to neurodegeneration.
3. **Oxidative Stress:** Mutations in the SOD1 gene can lead to ineffective handling of reactive oxygen species, resulting in oxidative damage to neurons.
4. **Excitotoxicity:** Overactivation of glutamate receptors can lead to increased calcium influx and neuronal death. This excessive glutamate activity is thought to contribute to motor neuron degeneration.
5. **Mitochondrial Dysfunction:** Impaired mitochondrial function can lead to energy deficits and increased production of reactive oxygen species, contributing to motor neuron death.
6. **Neuroinflammation:** Microglial cells and astrocytes, which usually support neuron function, can become activated and release pro-inflammatory cytokines that exacerbate neuronal damage.
7. **Axonal Transport Deficiencies:** Disruptions in the transport of essential molecules and organelles along the axons of neurons can impair neuron function and survival.
8. **RNA Metabolism Dysfunction:** Alterations in the processing and regulation of RNA can lead to the production of dysfunctional proteins that harm neurons.
Understanding these molecular mechanisms is critical for developing targeted therapies to treat or manage ALS. - Treatment
-
For lateral sclerosis, specifically Amyotrophic Lateral Sclerosis (ALS), treatment options are primarily focused on managing symptoms and improving quality of life since there is currently no cure.
1. **Medications**:
- Riluzole (Rilutek) can modestly slow disease progression.
- Edaravone (Radicava) may help reduce the decline in daily functioning.
2. **Therapies**:
- Physical therapy to maintain muscle strength and mobility.
- Occupational therapy to assist with daily activities.
- Speech therapy for speaking and swallowing difficulties.
3. **Supportive Care**:
- Nutritional support through dietary modifications or feeding tubes if necessary.
- Respiratory support, including non-invasive ventilation or mechanical ventilation.
4. **Assistive Devices**:
- Wheelchairs, communication devices, and other equipment to aid mobility and communication.
5. **Multidisciplinary Care**:
- Regular monitoring and coordinated care from a team of specialists, including neurologists, physiotherapists, occupational therapists, speech therapists, and respiratory therapists.
Nanotechnology advancements are being explored in ALS research, such as nano-drug delivery systems to cross the blood-brain barrier more effectively and target neural tissue. However, these are still predominantly in experimental stages. - Compassionate Use Treatment
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For lateral sclerosis, especially Amyotrophic Lateral Sclerosis (ALS), compassionate use treatments and off-label or experimental treatments include:
1. **Compassionate Use Treatments:**
- *Edaravone*: Approved in the U.S. and some other countries, but can be available under compassionate use in regions where it’s not yet approved.
- *NurOwn (mesenchymal stem cell therapy)*: Available under compassionate use programs in certain jurisdictions.
- Access to investigational drugs through expanded access programs.
2. **Off-label Treatments:**
- *Riluzole*: The only FDA-approved medication for ALS, used off-label at different dosages or in combination with other drugs.
- *Nuedexta*: Originally approved for pseudobulbar affect, sometimes used off-label to manage bulbar symptoms of ALS.
3. **Experimental Treatments:**
- *Tofersen*: An antisense oligonucleotide under investigation for SOD1 ALS.
- *AMX0035*: An experimental drug combining sodium phenylbutyrate and taurursodiol, showing promise in clinical trials.
- *Gene therapy*: Various approaches targeting genetic mutations associated with ALS are under research.
- *Stem cell therapies*: Including Neuralstem and BrainStorm Cell Therapeutics’ NurOwn.
It's important to consult healthcare professionals for detailed information and access to these treatments, as availability and suitability vary by individual case and location. - Lifestyle Recommendations
-
Lateral sclerosis, such as Amyotrophic Lateral Sclerosis (ALS), requires specific lifestyle recommendations to help manage symptoms and maintain quality of life. Here are some key recommendations:
1. **Nutritional Support**:
- Maintain a balanced diet with adequate calories to prevent weight loss and ensure proper nutrition.
- Consider nutritional supplements if prescribed by a healthcare provider.
2. **Physical Therapy**:
- Engage in low-impact exercises like swimming or walking to maintain muscle strength and flexibility.
- Work with a physical therapist for tailored exercises to manage spasticity and cramps.
3. **Occupational Therapy**:
- Utilize adaptive tools and devices to assist with daily activities and maintain independence.
- Learn energy conservation techniques to manage fatigue.
4. **Respiratory Care**:
- Monitor respiratory function regularly and use non-invasive ventilation if needed.
- Practice breathing exercises as recommended by a respiratory therapist.
5. **Speech Therapy**:
- Early speech therapy can help with communication challenges; use alternative communication devices if needed.
6. **Emotional and Mental Health Support**:
- Seek regular counseling to help cope with emotional and psychological challenges.
- Join support groups to connect with others facing similar issues.
7. **Regular Medical Follow-ups**:
- Keep up with regular visits to healthcare providers to monitor disease progression and adjust treatments as necessary.
Adopting these lifestyle changes can contribute to better management of lateral sclerosis and improve overall well-being. - Medication
-
Lateral sclerosis refers to conditions like Amyotrophic Lateral Sclerosis (ALS). Medications that are commonly used in the treatment include:
1. **Riluzole** - This medication can slow the progression of ALS.
2. **Edaravone** - This helps to reduce the decline in daily functioning.
3. **Baclofen or Tizanidine** - These are used to manage muscle spasticity.
4. **Antidepressants** - These may be prescribed to address emotional lability or depression.
Other supportive treatments can also play a critical role in managing symptoms and improving quality of life. - Repurposable Drugs
-
For lateral sclerosis (also known as amyotrophic lateral sclerosis or ALS), some repurposable drugs under investigation include:
1. Riluzole: Initially developed for other neurodegenerative conditions.
2. Edaravone: Originally used for stroke recovery.
3. Lithium: Commonly used for mood disorders.
4. Tamoxifen: Primarily used for breast cancer treatment.
5. Ceftriaxone: An antibiotic that has shown potential neuroprotective effects.
Research in this area is ongoing, and these drugs are explored for their potential to slow disease progression or alleviate symptoms. - Metabolites
- Lateral sclerosis, including ALS (Amyotrophic Lateral Sclerosis), is not commonly referred to with the term "metabolites, nan." If "nan" refers to the availability of information or if it indicates "not applicable," it may suggest that specific metabolite data related to ALS isn't provided. However, ALS involves various metabolic dysfunctions, including disruptions in energy metabolism, oxidative stress, and mitochondrial dysfunction. Research into the specific metabolites involved is ongoing to better understand the disease mechanisms and potential therapeutic targets.
- Nutraceuticals
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Lateral sclerosis, commonly referred to as amyotrophic lateral sclerosis (ALS), is a progressive neurodegenerative disease. The role of nutraceuticals in ALS management is currently an area of active research, but their efficacy is not well-established.
Nutraceuticals often mentioned in the context of ALS include:
1. **Omega-3 Fatty Acids:** These are thought to have neuroprotective properties.
2. **Coenzyme Q10:** It may support mitochondrial function.
3. **Vitamin E:** An antioxidant that might help to combat oxidative stress.
4. **Creatine:** Often discussed for its potential to improve muscle function.
As for the term "nan," it may refer to nanotechnology applications in ALS. Nanotechnology has potential in drug delivery systems, which can target specific cells and tissues more effectively. This could improve the delivery of therapeutic agents to the nervous system and potentially slow disease progression.
While promising, more research is needed to establish the safety and efficacy of both nutraceuticals and nanotechnology in ALS treatment. It is crucial to consult healthcare professionals before starting any new treatment regimen. - Peptides
- In the context of lateral sclerosis, peptides and nanoparticles (abbreviated as "nan.") are areas of active research. Peptides, which are short chains of amino acids, are being studied for their potential therapeutic benefits in modulating disease processes or serving as biomarkers. Nanoparticles are being explored for their ability to deliver drugs or therapeutic agents more precisely to affected areas, potentially enhancing treatment efficacy and reducing side effects. Both fields are hoping to contribute to better management and understanding of the disease.