Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a rare neurodegenerative condition that affects the motor neurons in the brain and spinal cord. The development of ALS is still not well understood, but it is thought to be caused by a combination of genetic and environmental factors.

Research has shown that about 10 percent of ALS cases are inherited, with specific genes such as SOD1 and TARDBP being implicated in the condition. However, the majority of ALS cases occur randomly, without any known genetic cause.

The symptoms of ALS usually begin with muscle weakness and atrophy, leading to difficulties in movement and loss of motor function. As the disease progresses, patients may also experience changes in personality and cognitive function. In late stages of the disease, the muscles that control breathing may also be affected, which can lead to respiratory failure and death.

There is currently no cure for ALS, but there are treatment options available that can help manage the symptoms and slow the progression of the disease. Research on ALS is ongoing, with scientific studies and clinical trials being conducted to learn more about the causes and potential treatments for this condition.

For more information about ALS and to learn about resources and support for patients and their families, you can visit the National Amyotrophic Lateral Sclerosis (ALS) Registry website, the ALS Association website, or the ClinicalTrials.gov database for ongoing clinical trials and research studies related to ALS. References and additional articles can be found in PubMed and other scientific databases.

Frequency

Amyotrophic lateral sclerosis (ALS) is a rare neurological condition that affects the motor neurons responsible for muscle function. It is also known as Lou Gehrig’s disease, named after the famous baseball player who was diagnosed with the condition in the late 1930s.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

The frequency of ALS varies worldwide, with an estimated 2-3 cases per 100,000 individuals. It is more common in certain populations, such as individuals of European descent, and rare in others. The exact causes of ALS are still unknown, but both genetic and environmental factors have been associated with the development of the condition.

Several genes have been identified as being associated with ALS, including SOD1, C9orf72, TARDBP, and FUS, among others. Mutations in these genes can cause changes in the function of motor neurons, leading to the development of ALS.

According to scientific articles available on databases like PubMed and OMIM, the frequency of ALS is estimated to be around 5-10% among all cases of motor neuron diseases worldwide. The central genetic defect in ALS is believed to be the TARDBP gene, which is associated with both ALS and frontotemporal dementia.

Clinical studies and research conducted by organizations and medical centers, such as the National Institute of Neurological Disorders and Stroke (NINDS) and the ALS Therapy Development Institute, aim to learn more about the causes and development of ALS. These studies involve testing potential treatments, genetic testing, and monitoring patients to better understand the condition.

Publications from advocacy organizations, such as the ALS Association, provide valuable information about the condition, its symptoms, and available resources for patients and their families. These organizations play a key role in raising awareness about ALS and supporting research efforts to find a cure.

In summary, ALS is a rare condition that affects motor neurons and causes muscle atrophy. Its frequency is estimated to be around 2-3 cases per 100,000 individuals worldwide. Genetic mutations in genes such as TARDBP are associated with the development of ALS. Ongoing research and clinical trials aim to learn more about the condition and develop effective treatments.

Causes

Amyotrophic lateral sclerosis (ALS) is a complex disease that affects the function of nerves and muscles. Its cause is not yet fully understood, but both genetic and environmental factors are thought to play a role in its development.

Genetics and Inheritance: ALS can be caused by mutations in several different genes. These mutations can be inherited from a person’s parents or can occur spontaneously. Some of the genes associated with ALS include C9orf72, SOD1, TARDBP, and FUS. Mutations in these genes can be found in about 60% of familial ALS cases and about 10% of sporadic ALS cases. Inheritance patterns can be autosomal dominant (e.g., C9orf72) or autosomal recessive (e.g., SOD1).

Environmental Factors: While the majority of ALS cases are sporadic and not directly inherited, researchers have identified several environmental factors that may increase the risk of developing the disease. These factors include exposure to certain toxins and chemicals, such as lead, pesticides, and heavy metals. However, more research is needed to fully understand the role of these environmental factors in the development of ALS.

Other Diseases and Conditions: ALS has also been associated with other neurodegenerative diseases and conditions. For example, some people with ALS may also develop frontotemporal dementia, a disorder that affects personality and behavior. Additionally, ALS can be associated with other motor neuron diseases, such as progressive muscular atrophy and primary lateral sclerosis.

Age and Gender: ALS can affect people of all ages, but it is most commonly diagnosed in individuals between the ages of 40 and 70. The disease is slightly more common in men than in women, with a male-to-female ratio of about 1.5 to 1.

Research and Resources: Scientists continue to study the causes of ALS in order to better understand the disease and develop effective treatments. A wealth of information on ALS causes and research can be found in scientific articles and databases such as PubMed, ClinicalTrials.gov, and OMIM. Patients and their families can also access additional information and resources through specialized ALS organizations and support groups worldwide.

Learn more about the genes associated with Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative condition that affects the nerves responsible for controlling muscle movement. It is also known as Lou Gehrig’s disease, after the famous baseball player who was diagnosed with the condition. ALS can cause weakness, muscle atrophy, and eventually difficulty speaking, swallowing, and breathing.

While the specific causes of ALS are still being researched, there is evidence to suggest that genetic factors play a role in the development of the condition. Several genes have been identified that are associated with ALS and related disorders, such as frontotemporal dementia.

The National Institutes of Health (NIH) has established the ALS Genetic Association Database (ALSGAD) to catalog information on the genes associated with ALS. This scientific resource provides information on the genetic changes and mutations that have been linked to the condition.

One of the most well-known genes associated with ALS is called SOD1 (superoxide dismutase 1). Mutations in this gene are estimated to be responsible for about 20% of familial cases of ALS (where the condition runs in families) and 2% of sporadic cases (where there is no family history of the condition).

Another gene associated with ALS is called C9orf72. Mutations in this gene are the most common cause of familial ALS and frontotemporal dementia, accounting for about 40% of familial cases and 5-6% of sporadic cases.

Other genes associated with ALS include TARDBP, FUS, and UBQLN2. Mutations in these genes are less common, but still contribute to the development of the condition.

Learning more about the genes associated with ALS is important for understanding the underlying causes of the condition and developing new treatments. It also provides valuable information for genetic counseling, as individuals with a family history of ALS may be at increased risk of developing the condition themselves.

The Genetics and Rare Diseases Information Center, a service of the National Institute of Neurological Disorders and Stroke, provides comprehensive information on the genetics of ALS and related conditions. Their website, along with other specialized resources like OMIM, can be useful sources of information for patients, families, and healthcare providers.

In addition, there are several advocacy and support organizations dedicated to helping individuals and families affected by ALS. These organizations provide resources and support for individuals living with the condition, as well as funding for scientific research.

Overall, understanding the genetic basis of ALS is an ongoing area of research. By studying the genes associated with the condition, scientists hope to uncover new insights into the causes and mechanisms of the disease, which may ultimately lead to more effective treatments and improved outcomes for patients.

Inheritance

Amyotrophic lateral sclerosis (ALS) is a rare neurological condition that affects the motor neurons in the central nervous system. It is associated with the degeneration of these cells, which causes a progressive loss of muscle movement. The exact cause of ALS is still unknown, but scientific research has shown that genetics plays a significant role in its development.

About 10 percent of ALS cases are known to be inherited, while the remaining 90 percent are sporadic cases with no apparent family history. Mutations in several genes have been associated with inherited ALS, including SOD1, C9orf72, TARDBP, and FUS. These mutations can be passed down from one generation to the next, increasing the risk of developing the condition.

Several studies have estimated the frequency of inherited ALS worldwide. According to data from the National Library of Medicine’s PubMed database and the Online Mendelian Inheritance in Man (OMIM) database, approximately 20 percent of ALS cases have a family history of the condition. However, the exact percentage may vary between different populations and geographical regions.

Inherited ALS can follow different inheritance patterns, including autosomal dominant and autosomal recessive inheritance. Autosomal dominant inheritance means that a person only needs to inherit a mutated gene from one parent to develop the condition, while autosomal recessive inheritance requires the inheritance of mutated genes from both parents.

Some cases of inherited ALS are associated with other clinical conditions, such as frontotemporal dementia (FTD). FTD is a neurodegenerative disorder that affects personality, behavior, and language. The TARDBP and C9orf72 gene mutations, in particular, have been linked to both ALS and FTD.

It is important to note that not all cases of ALS are inherited. The majority of people with ALS have no apparent family history of the condition and are considered to have sporadic ALS. Sporadic ALS is thought to be caused by a combination of genetic and environmental factors.

For those with a family history of ALS, genetic testing and counseling can provide valuable information about the risk of developing the condition. It can also help identify potential carriers of the mutated genes, even if they do not show any symptoms. Early detection and intervention can play a crucial role in managing the disease and improving the quality of life for patients.

Additional research on the genetics of ALS is ongoing, with the aim of identifying new genes and mutations associated with the condition. This scientific knowledge can provide a better understanding of the causes and mechanisms of ALS, leading to improved diagnostic methods, treatments, and potential therapies in the future.

Other Names for This Condition

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, is a severe neurodegenerative disease that affects the motor neurons, cells responsible for controlling voluntary muscle movement. It is characterized by progressive muscle weakness and atrophy, leading to difficulties with speaking, swallowing, and eventually breathing.

In addition to ALS, this condition is referred to by several other names:

• Frontotemporal dementia with motor neuron disease
• ALS-parkinsonism-dementia complex
• Motor neuron disease, amyotrophic lateral sclerosis type
• Charcot’s disease
• Gehrig’s disease
• Motor neuron disease 1, familial
• MND1
• Bulbar palsy, progressive

These names reflect different aspects of the condition, such as its association with frontotemporal dementia or parkinsonism. Some of them are historical names that have been used in the past.

It is estimated that ALS affects around 2 in every 100,000 people worldwide, with varying frequency in different countries. In the United States, the ALS Association estimates that there are approximately 16,000 people living with ALS. ALS can occur at any age, but it tends to appear more frequently in individuals between the ages of 40 and 70.

The exact cause of ALS is still not fully understood, but both genetic and environmental factors are believed to play a role. Several genes have been identified that are associated with inherited forms of ALS, including SOD1, C9ORF72, TARDBP, and FUS. However, the majority of ALS cases are sporadic, meaning they occur without a known genetic cause.

References:

1. “Amyotrophic lateral sclerosis”. Genetics Home Reference. U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/condition/amyotrophic-lateral-sclerosis.
2. Ravits, J.; Appel, S.; Baloh, R. H.; Barohn, R.; Brooks, B.; Elman, L.; … & Miller, R. (2013). “Deciphering amyotrophic lateral sclerosis: what phenotype, neuropathology and genetics are telling us about pathogenesis”. amyotrophic lateral sclerosis: official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 14(1), 5-18.
3. Andersen, P. M.; Abrahams, S.; Borasio, G. D.; de Carvalho, M.; Chio, A.; Van Damme, P.; … & Weber, M. (2012). “EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS) – revised report of an EFNS task force”. European Journal of Neurology, 19(3), 360-375.
4. “Amyotrophic Lateral Sclerosis Overview”. National Institute of Neurological Disorders and Stroke. Retrieved from https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Amyotrophic-Lateral-Sclerosis-ALS-Fact-Sheet.
5. “Amyotrophic Lateral Sclerosis”. OMIM. Retrieved from https://www.omim.org/entry/105400.
6. “Amyotrophic Lateral Sclerosis (ALS) Fact Sheet”. National Institute of Neurological Disorders and Stroke. Retrieved from https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Amyotrophic-Lateral-Sclerosis-ALS-Fact-Sheet.
7. “Amyotrophic Lateral Sclerosis”. PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Amyotrophic+Lateral+Sclerosis.
8. “Amyotrophic Lateral Sclerosis”. ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/ct2/results?term=Amyotrophic+Lateral+Sclerosis&Search=Search.
9. “Amyotrophic Lateral Sclerosis”. Moving Towards a Cure: ALS Therapy Development Institute. Retrieved from https://www.als.net/als-research/what-is-als/.
10. “Amyotrophic Lateral Sclerosis (ALS)”. National Institute of Neurological Disorders and Stroke. Retrieved from https://www.ninds.nih.gov/Disorders/All-Disorders/Amyotrophic-Lateral-Sclerosis-ALS-Information-Page.

Additional Information Resources

Below are additional resources for more information on Amyotrophic Lateral Sclerosis (ALS):

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on genetic conditions. You can find information on the genes and genetic mutations associated with ALS in OMIM.
• ALS Association: The ALS Association is a national organization in the United States that provides advocacy, support, and information for individuals and families affected by ALS. Their website offers resources and information about the condition.
• Seattle Genetics: Seattle Genetics is a biotechnology company that is focused on developing targeted therapies for diseases including ALS. Their website provides information about their research and clinical trials in ALS.
• PubMed: PubMed is a database of scientific articles and research papers. You can search for articles related to ALS to learn more about its causes, clinical changes, and treatment options.
• National Institute of Neurological Disorders and Stroke (NINDS): NINDS is an institute within the National Institutes of Health (NIH) that conducts and supports research on neurological conditions, including ALS. Their website offers information about the condition and ongoing research studies.
• Amyotrophic Lateral Sclerosis (ALS) Research Center: The ALS Research Center at the University of California, San Francisco, is dedicated to studying ALS and developing new treatments. Their website provides information about the condition, research studies, and resources for patients and families.

These resources can provide additional information on the frequency of ALS worldwide, the genetics of the condition, and available resources for patients and families affected by ALS. They can also help you learn more about clinical trials and ongoing research studies.

Genetic Testing Information

Genetic testing for Amyotrophic lateral sclerosis (ALS) can provide crucial information about the causes and inheritance of this neurodegenerative disease. ALS, also known as Lou Gehrig’s disease, is a rare condition that affects the motor neurons and leads to the progressive loss of muscle movement.

There are several genes associated with ALS, and genetic testing can help identify mutations in these genes. The most common gene associated with ALS is the C9orf72 gene, which is estimated to be responsible for up to 40 percent of familial cases and 6 percent of sporadic cases. Other genes, such as SOD1, TARDBP, and FUS, are also commonly associated with ALS.

National and specialized genetics laboratories provide genetic testing services for ALS. These laboratories have access to a catalog of known genetic mutations associated with ALS and other motor neuron diseases. Genetic testing can help identify the specific mutations in these genes, providing valuable information for clinical diagnosis and treatment strategies.

Genetic testing for ALS is recommended for individuals with a family history of the disease or those who develop ALS at a young age (<50 years old). It can also be useful for understanding the inheritance pattern of ALS within families and providing information on the likelihood of passing the disease to future generations.

Genetic testing can be done through a simple blood or saliva sample. The sample is sent to a specialized laboratory, where genetic analysis is performed to identify any mutations in the genes associated with ALS. Results from genetic testing can help clinicians make more accurate diagnoses and guide treatment decisions.

In addition to clinical applications, genetic testing also plays a significant role in research and scientific advancements. By studying the genetic mutations causing ALS, researchers can gain insights into the underlying mechanisms of the disease and develop targeted therapies. This research can contribute to the development of more effective treatments and eventually a cure for ALS.

Resources and Support

• For more information on genetic testing for ALS, you can visit the national ALS association’s website.
• The ALS Association provides resources and support for individuals and families affected by ALS, including information on genetic testing and genetic counseling services.
• Scientific research on ALS genetics and related topics can be found in specialized journals such as Neurology, Nature Neuroscience, and the Journal of Neuromuscular Diseases.
• References to additional sources on ALS genetics and genetic testing can be found on websites like PubMed and ClinicalTrials.gov.
• Advocacy groups such as the Muscular Dystrophy Association and the ALS Therapy Development Institute also provide information and support for individuals with ALS and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an informative resource that provides information on genetic and rare diseases, including Amyotrophic lateral sclerosis (ALS). ALS, also known as Lou Gehrig’s disease, is a progressive neurodegenerative disorder that affects the motor neurons in the brain and spinal cord.

GARD offers valuable information on the genetic aspects of ALS. It explains how certain mutations in genes can lead to the development of the condition. ALS can be caused by mutations in various genes, including C9orf72, SOD1, TARDBP, and FUS, among others. The inheritance pattern of ALS varies, with some cases being inherited in a familial manner and others occurring sporadically.

Genetic testing is available for ALS and can help determine if a person has inherited a specific gene mutation associated with the disease. This testing can be particularly beneficial for individuals with a family history of ALS, as it can help identify their risk of developing the condition.

GARD provides a comprehensive catalog of information about ALS and other genetic disorders. It offers a wealth of resources, including scientific references, clinical trial information, and support organizations. GARD also provides links to PubMed and ClinicalTrials.gov, where individuals can find more information about ongoing research studies on ALS.

ALS is a rare condition, with an estimated prevalence of 4 to 8 cases per 100,000 people worldwide. It typically affects individuals in their late 50s to early 60s, although it can occur at any age. The condition is characterized by progressive muscle weakness and atrophy, ultimately leading to difficulties with movement, speech, and breathing.

In addition to motor symptoms, ALS can also be associated with cognitive, behavioral, and personality changes. Some individuals may develop frontotemporal dementia, a type of dementia that affects the frontal and temporal lobes of the brain. GARD provides information on the clinical features of ALS, including its association with frontotemporal dementia.

GARD offers support to individuals and families affected by ALS by providing access to resources, support organizations, and research studies. It aims to empower individuals with information and help them navigate the complexities of the condition.

Examples of Genes Associated with ALS

Gene Name	Associated Condition
C9orf72	Amyotrophic lateral sclerosis and frontotemporal dementia
SOD1	Amyotrophic lateral sclerosis
TARDBP	Amyotrophic lateral sclerosis and frontotemporal dementia
FUS	Amyotrophic lateral sclerosis

In conclusion, the Genetic and Rare Diseases Information Center (GARD) provides valuable information on genetic and rare diseases, including Amyotrophic lateral sclerosis. It offers support resources, clinical trial information, and scientific references to help individuals and families affected by ALS. GARD serves as a comprehensive and reliable source of information for individuals seeking to learn more about ALS and other rare genetic conditions.

Patient Support and Advocacy Resources

Patients and families impacted by amyotrophic lateral sclerosis (ALS) can benefit from a variety of support and advocacy resources. These resources provide information, support, and assistance to help patients navigate their journey with this progressive and debilitating disease.

• National ALS organizations: Several national organizations are dedicated to supporting ALS patients and their families. These organizations offer educational materials, support groups, and fundraising initiatives to promote research and provide assistance to those affected by the disease.
• Online communities: Online communities and forums provide a platform for individuals to connect with others who are living with ALS. These communities offer a space for sharing experiences, advice, and emotional support.
• Patient advocacy organizations: Patient advocacy organizations play a crucial role in raising awareness about ALS and advocating for better treatments and care. These organizations work closely with policymakers, researchers, and healthcare professionals to drive change and improve the lives of ALS patients.
• Genetic testing and counseling: Genetic testing can help individuals determine if they carry the genetic mutations associated with familial ALS. By identifying these mutations, individuals can make informed decisions about family planning and preventive measures. Genetic counseling provides support and guidance to individuals and families dealing with ALS-related genetic mutations.
• ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive registry of clinical trials worldwide. ALS patients may find information about ongoing clinical trials that are investigating new treatments or interventions for the disease. Participating in clinical trials can provide patients with access to experimental therapies and contribute to the advancement of ALS research.

Additional resources:

• Genetics Home Reference (GHR): GHR provides information about the genetics of ALS and related disorders. It catalogs the genes associated with ALS and provides details about their function and the changes they undergo in ALS patients.
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource for information about genetic diseases. It provides detailed information about genes associated with ALS and related conditions.
• The ALS Association: The ALS Association is a leading national nonprofit organization dedicated to finding a cure for ALS, supporting patients and their families, and advocating for change. The association offers a wide range of services, including support groups, specialized clinics, and educational articles.
• Neurology journals: Journals such as Neurology, Neurosci, and JAMA Neurology publish specialized articles about ALS and related diseases. These articles provide the latest research findings, clinical guidelines, and information about management and treatment options.

By accessing these resources, ALS patients and their families can learn more about the disease, find support, and stay informed about the latest research and clinical advances. For more information and references, please visit the respective websites of the mentioned organizations and resources.

Research Studies from ClinicalTrials.gov

Research studies on amyotrophic lateral sclerosis (ALS) and its associated diseases, such as frontotemporal dementia (FTD), are being conducted to better understand the causes, progression, and treatment options for these conditions. ALS is a rare neurological condition that affects the specialized cells, called motor neurons, which control muscle function. It is estimated that ALS affects about 2 in every 100,000 people worldwide.

One of the known causes of ALS is a mutation in certain genes, such as C9orf72, SOD1, and TARDBP. Clinical studies are being conducted to investigate the genetics of ALS and how these genetic mutations lead to the development of the condition. In addition to ALS, these genetic mutations have also been associated with other diseases, such as FTD.

Research studies are also focusing on understanding the frequency and causes of ALS in different populations. For example, studies like the Seattle ALS Research Study aim to collect information from patients with ALS to better understand the disease’s history, clinical features, and genetic changes. This research will help identify additional genes and risk factors associated with ALS.

Furthermore, clinical trials are investigating potential treatments for ALS. These studies aim to develop new therapies that can slow down the progression of the disease and improve the quality of life for ALS patients. Some of the ongoing studies are testing investigational drugs, stem cell therapies, and gene therapies that target the underlying mechanisms of ALS.

By conducting research studies, scientists and clinicians hope to gain more insights into the causes, genetics, and treatment options for ALS and its associated diseases. These studies are essential for advancing scientific knowledge and providing resources for patients and their families affected by these conditions.

References:

– Andersen PM. Amyotrophic lateral sclerosis associated with mutations in the TARDBP gene: a predominant phenotype of sporadic disease with a relatively fast progression. J Mol Neurosci. 2011;45(3): 401-12.

– ClinicalTrials.gov [Internet]. Bethesda (MD): National Library of Medicine (US). 2000 [cited 2021 Oct 19]. Available from: https://clinicaltrials.gov/.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information on the genetic basis of a wide range of inherited conditions, including Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease.

ALS is a neurodegenerative disorder characterized by the progressive loss of motor neurons, leading to muscle weakness, atrophy, and eventually paralysis. The exact cause of ALS is still unknown, but it is believed to be a complex interplay of genetic and environmental factors.

Within the OMIM catalog, there are several genes associated with ALS. One of the most well-known genes is TDP-43 (TAR DNA-binding protein 43), encoded by the TARDP gene. Mutations in this gene have been found in a small percentage of people with familial ALS, as well as some cases of sporadic ALS.

The OMIM catalog provides detailed information on the function and genetics of these genes, as well as their associated diseases. It also includes references to relevant scientific research from PubMed and clinical trials from clinicaltrialsgov, allowing researchers and clinicians to stay up-to-date with the latest developments.

Currently, there is no cure for ALS. However, the information available in the OMIM catalog can help researchers develop a better understanding of the disease and potentially identify new treatment strategies. In addition, the catalog provides resources and support for advocacy groups and organizations dedicated to supporting people affected by ALS.

It is estimated that ALS affects around two in every 100,000 people worldwide. While the exact frequency may vary, ALS is considered a relatively rare condition. Given its impact on movement and motor function, it is classified as a motor neuron disease and falls within the broader category of neurodegenerative disorders.

By cataloging the genes and diseases associated with ALS, OMIM plays a crucial role in advancing research and understanding of this devastating condition. It provides a centralized source of information that researchers, healthcare professionals, and advocacy groups can rely on to learn more about ALS, its causes, and potential treatment options.

Overall, the OMIM catalog is a valuable resource for anyone interested in the genetics and clinical aspects of ALS and other genetic disorders. Its comprehensive coverage and regularly updated information make it an indispensable tool for the scientific community.

Scientific Articles on PubMed

When searching for scientific information and research on amyotrophic lateral sclerosis (ALS), PubMed is a valuable resource. PubMed is a database of references and abstracts on a wide variety of medical topics, including ALS. It is maintained by the National Center for Biotechnology Information (NCBI) and is a trusted source of information for researchers, healthcare professionals, and the general public.

PubMed contains a vast collection of articles on ALS, covering various aspects of the disease including its causes, clinical features, genetics, inheritance patterns, and associated conditions. These articles are published in scientific journals from around the world, providing a wealth of information for those interested in learning more about ALS.

ALS, also known as Lou Gehrig’s disease, is a neurodegenerative disorder that affects the motor neurons in the brain and spinal cord. It leads to progressive muscle weakness, difficulty in speaking, swallowing, and eventually paralysis. In some cases, ALS may also have an associated frontotemporal dementia, affecting the individual’s personality and cognitive abilities.

Scientific articles on PubMed provide insights into the genetics of ALS, including the identification of specific genes and mutations that are associated with the disease. These articles also discuss the frequency of genetic changes in ALS patients and provide information on genetic testing for familial ALS.

In addition to genetic factors, other causes of ALS are also explored in scientific articles. Environmental factors, lifestyle choices, and various biological mechanisms are investigated to better understand the disease and develop potential treatments.

PubMed is an invaluable resource for those interested in reading scientific articles on ALS. It provides access to a wide range of research papers, allowing individuals to stay up-to-date with the latest advancements in ALS research. The information available on PubMed can help individuals affected by ALS, their families, and healthcare professionals in making informed decisions regarding treatment and support.

If you are interested in learning more about ALS and accessing scientific articles on PubMed, visit their website or consult with your healthcare provider for additional resources and support.

• PubMed: https://pubmed.ncbi.nlm.nih.gov/
• National Center for Biotechnology Information (NCBI): https://www.ncbi.nlm.nih.gov/

References

• Andersen, P. M., & Al-Chalabi, A. (2011). Clinical genetics of amyotrophic lateral sclerosis: what do we really know?. Nature reviews Neurology, 7(11), 603-615. doi: 10.1038/nrneurol.2011.150
• Consortium, U. K. (2017). Genetic causes of ALS and frontotemporal dementia. Retrieved from: https://www.ncbi.nlm.nih.gov/pubmed/28424041
• Genetics Home Reference. (2016). Amyotrophic lateral sclerosis. Retrieved from: https://ghr.nlm.nih.gov/condition/amyotrophic-lateral-sclerosis
• Lynch, D. R. (2002). ALS: What causes the gene to change? Retrieved from: https://pubmed.ncbi.nlm.nih.gov/12143985/
• National Institute of Neurological Disorders and Stroke. (2019). Amyotrophic lateral sclerosis (ALS) fact sheet. Retrieved from: https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Amyotrophic-Lateral-Sclerosis-ALS-Fact-Sheet
• Pizza, V., Agresta, A., D’Amico, M., Festa, M., & Capasso, M. (2020). Genetics of amyotrophic lateral sclerosis: a review of the current knowledge. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/32838015/