Spinal muscular atrophy

Spinal Muscular Atrophy (SMA) is a rare genetic disease that affects the muscles. It is caused by a mutation in the SMN1 gene, which is responsible for producing a protein called Survival Motor Neuron (SMN) that is essential for the proper function of motor neurons.

SMA is a highly variable condition, with different types and levels of severity. The most severe form, SMA type 1 or Werdnig-Hoffmann disease, typically presents in infants, who have significant muscle weakness and difficulty moving. This condition often leads to respiratory complications and a shortened life expectancy.

Other types of SMA are less severe, with varying symptoms and age of onset. Some individuals may have mild muscle weakness and be able to walk unaided, while others may require support to move. Studies have identified a second gene, SMN2, which can produce functional SMN protein, but in lower amounts than SMN1. The number of copies of the SMN2 gene a patient has can influence the severity of their symptoms.

Due to the rarity of SMA, there is limited information and resources available for those affected by the condition. However, there are advocacy groups and research centers dedicated to providing support and conducting studies to learn more about the causes and treatment options for SMA.

Research on SMA has led to the development of clinical trials and testing methods. Additional studies and research are ongoing to further understand the genetics and inheritance patterns of this disease. Patients and their families can find resources and references on websites like OMIM and ClinicalTrials.gov to learn more about SMA and associated articles.

In conclusion, spinal muscular atrophy is a rare genetic disease that affects the muscles. The severity and symptoms of SMA vary depending on the type and individual patient. Ongoing research and advocacy efforts provide hope for improved understanding and treatment of this condition.

Frequency

In the general population, spinal muscular atrophy (SMA) occurs with a frequency of approximately 1 in every 6,000 to 10,000 live births.

SMA is a genetic condition that is caused by a mutation in the SMN2 gene. This gene is responsible for producing a protein called survival motor neuron (SMN). In individuals with SMA, the SMN2 gene does not produce enough of this protein, leading to the degeneration of motor neurons and resulting in muscle weakness and atrophy.

There are different types of SMA, with varying degrees of severity. The most severe form is known as Werdnig-Hoffmann disease, which typically presents in infants and results in early death. Other types of SMA can manifest in childhood or adulthood and may have milder symptoms.

Due to the rarity of the condition, SMA is often underdiagnosed or misdiagnosed. It is important for healthcare providers to have access to accurate information about the condition in order to provide proper support and care for patients.

Scientific research and clinical trials are ongoing to learn more about SMA and develop potential treatments. For additional information on ongoing clinical trials, the website clinicaltrials.gov can be consulted.

Resources such as OMIM (Online Mendelian Inheritance in Man), Pubmed, and the Genetic and Rare Diseases Information Center (GARD) also provide valuable articles and information on SMA and other related diseases.

Causes

Spinal muscular atrophy (SMA) is primarily caused by a genetic mutation in the SMN1 gene, which provides instructions for producing a protein called survival motor neuron (SMN) protein. Without sufficient levels of this protein, the motor neurons in the spinal cord degenerate over time, leading to muscle weakness and atrophy.

SMA is inherited in an autosomal recessive pattern, which means that both copies of the SMN1 gene must be mutated for an individual to develop the condition. If a person inherits one mutated copy and one normal copy, they are known as carriers and typically do not show symptoms or have mild forms of the disease. However, carriers can pass the mutated gene on to their children.

There is a second gene called SMN2 that is very similar to SMN1, but it produces a smaller amount of functional SMN protein. The number of SMN2 gene copies a person has can influence the severity of the condition. Some individuals with additional copies of the SMN2 gene may have milder forms of SMA.

The exact frequency of SMA varies among different populations, but it is considered a rare disease. The incidence is estimated to be 1 in 6,000 to 10,000 live births. SMA affects males and females equally.

Genetic testing can confirm a diagnosis of SMA and determine the specific mutation involved. This information can be helpful for genetic counseling, family planning, and providing scientific support for clinical trials and research studies.

For more information about SMA and its causes, you can refer to the following resources:

  • PubMed: A database of scientific articles and research studies on SMA and other diseases.
  • OMIM: A catalog of human genes and genetic disorders, including SMA.
  • ClinicalTrials.gov: A registry of clinical trials investigating potential treatments for SMA.
  • Advocacy organizations and patient support groups can provide additional information and support for those affected by SMA.

It is important to consult with healthcare professionals and trusted sources to learn more about SMA and its causes. This article provides a general overview and does not replace medical advice.

Learn more about the genes associated with Spinal muscular atrophy

Spinal muscular atrophy (SMA) is a rare genetic condition that affects the motor neurons in the spinal cord. It is characterized by the progressive loss of muscle strength and control, leading to difficulty in movement and possible respiratory complications.

SMA is caused by mutations in the SMN1 (survival motor neuron 1) gene, which is responsible for producing a protein called SMN. This protein is essential for the survival and functioning of motor neurons. Without sufficient amounts of SMN protein, the motor neurons gradually degenerate, resulting in the symptoms of SMA.

There are different types of SMA, ranging from mild to severe. The severity of the condition varies depending on the number of copies of a related gene called SMN2. SMN2 produces a slightly different version of the SMN protein, which is less functional. Individuals with a higher number of SMN2 copies tend to have milder forms of SMA, while those with fewer copies experience more severe symptoms.

Research studies have shown that increasing the production of functional SMN protein can help improve motor neuron function in SMA patients. This has led to the development of various treatment strategies, including gene therapy and small molecule drugs, that aim to increase SMN protein levels.

To learn more about the genes associated with SMA, you can refer to scientific articles and publications. PubMed, a database of scientific articles, is a valuable resource for finding relevant information on SMA and its genetic basis. The Online Mendelian Inheritance in Man (OMIM) catalog is another useful database that provides comprehensive information on genetic disorders, including SMA.

Additionally, advocacy and support organizations for SMA, such as the Cure SMA foundation and SMA Support UK, provide resources and information on the latest research and clinical trials related to SMA genetics. These organizations can help you stay informed about the ongoing efforts to better understand and treat SMA.

Genetic testing can be done to identify the specific mutations in the SMN1 gene and determine the type and severity of SMA in a patient. This testing is typically carried out by specialized genetic testing centers or laboratories. The results of genetic testing can provide valuable information for treatment planning and personalized care for SMA patients and their families.

It is important to note that while genetic mutations in the SMN1 gene are the most common cause of SMA, there are other less common genetic mutations that can also result in similar motor neuron diseases. These include mutations in other genes, such as those associated with infantile-onset ascending hereditary spastic paralysis (IAHSP), spinal muscular atrophy with respiratory distress type 1 (SMARD1), and Werdnig-Hoffmann disease.

In conclusion, understanding the genetic basis of SMA is crucial for developing effective treatments and interventions for patients. By staying informed and supporting research efforts, we can make progress in the fight against spinal muscular atrophy and other rare diseases that affect motor function.

Inheritance

Spinal muscular atrophy (SMA) is a genetic disease that is typically inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the disease.

The frequency of SMA varies from population to population, with some rare types of the disease having a higher frequency in certain ethnic groups. The most common form of SMA is caused by a mutation in the SMN1 gene. This gene provides instructions for producing a protein called survival motor neuron (SMN) that is essential for the survival of motor neurons. Without this protein, the motor neurons cannot function properly and eventually die, leading to muscle weakness and atrophy.

Most individuals have a second copy of the SMN1 gene, called SMN2, which produces a slightly different version of the SMN protein. However, due to a specific mutation in the SMN2 gene, only a small amount of functional SMN protein is produced. This is not sufficient to fully compensate for the loss of SMN1, resulting in the development of SMA.

The severity of SMA can vary depending on the number of functional copies of the SMN2 gene that an individual has. Infants with SMA type 1, also known as Werdnig-Hoffmann disease, typically have only one copy of SMN2 and experience severe muscle weakness and respiratory difficulties from an early age.

See Also:  CFH gene

Individuals with SMA type 2 have two or three copies of SMN2 and typically possess more functional SMN protein, resulting in milder symptoms and a longer lifespan. SMA type 3, also known as Kugelberg-Welander disease, is even milder and typically appears in childhood or adolescence.

In some rare cases, SMA can be inherited in an autosomal dominant manner, where a single copy of the mutated gene is sufficient to cause the disease. These cases are often associated with additional atypical symptoms and are typically caused by different mutations in the SMN1 gene.

Prior to having a child, individuals who are carriers of the SMA gene mutation can undergo genetic testing to determine their risk of having a child with SMA. This information can help individuals make informed decisions about family planning and prenatal testing.

For additional information about SMA inheritance, genetic testing, and resources for SMA patients and their families, refer to the following articles and research studies:

  • Spinal Muscular Atrophy – Genetics Home Reference: This article provides information on the genetics of SMA, including inheritance patterns and the role of specific genes. (Available at: https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy)
  • Spinal Muscular Atrophy – OMIM: This article provides a catalog of known SMA genes and associated mutations. (Available at: https://omim.org/entry/253300)
  • ClinicalTrials.gov: This website provides information on ongoing and completed clinical trials related to SMA research and support. (Available at: https://clinicaltrials.gov)
  • SMA Information for Clinicians: This scientific article provides an overview of SMA, including genetics, clinical features, and management. (Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5472725/)

It is important for individuals and families affected by SMA to seek support from medical professionals and SMA advocacy groups to learn more about the disease, available treatments, and ongoing research efforts.

Other Names for This Condition

Spinal muscular atrophy is also known by other names, including:

  • SMN (Survival Motor Neuron)-related SMA
  • Werdnig-Hoffmann disease
  • Proximal spinal muscular atrophy
  • SMARD1 (Spinal Muscular Atrophy with Respiratory Distress Type 1)

These names are used to describe different types and variations of spinal muscular atrophy. It is important to note that while some of these names are more commonly used than others, they all refer to the same condition.

For more information about spinal muscular atrophy and its associated names, you can learn from scientific articles and resources available in the scientific catalog of PubMed. Additionally, patient advocacy groups and clinical trial centers can provide further information about testing, inheritance, and treatment options.

Additional Information Resources

For more information on Spinal Muscular Atrophy (SMA), the following resources may be helpful:

  • PubMed – A database of scientific articles on various topics, including SMA. You can find studies and research papers on the genetic and clinical aspects of SMA by searching for keywords like “spinal muscular atrophy” or “SMA.”
  • National Institute of Neurological Disorders and Stroke (NINDS) – The NINDS catalog provides information on different neurological diseases, their causes, and treatment options. You can find resources on SMA and other related disorders in their catalog.
  • SMA Support UK – This UK-based organization offers support and information to individuals and families affected by SMA. Their website has resources for parents, research updates, and information on advocacy efforts.
  • Genetic and Rare Diseases Information Center (GARD) – GARD provides information for patients and healthcare professionals about rare genetic diseases, including SMA. You can learn about the genetic causes, signs and symptoms, diagnosis, and management of SMA on their website.
  • Werdnig-Hoffmann Disease Foundation – This foundation supports individuals with Werdnig-Hoffmann disease, a severe form of SMA. Their website provides information on the condition and resources for families.
  • ClinicalTrials.gov – This database lists ongoing clinical trials investigating new treatments or interventions for various diseases, including SMA. You can find information on clinical trials and research studies related to SMA to stay updated on the latest advancements.
  • National Organization for Rare Disorders (NORD) – NORD is a resource for patients and families affected by rare diseases. Their website has information on SMA and other rare diseases, including resources on financial assistance and advocacy.

Please note that the above resources are for informational purposes only and should not replace medical advice or consultation with healthcare professionals regarding SMA.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of spinal muscular atrophy (SMA). It involves analyzing a patient’s DNA to identify any mutations in the survival motor neuron 1 (SMN1) gene, which is associated with SMA. Genetic testing can help confirm a diagnosis, determine the severity of the condition, and provide information about the inheritance pattern.

In SMA, a person must have two copies of a mutated SMN1 gene to develop the condition. Individuals who have one copy of the mutated gene and one copy of the functional gene are carriers of SMA and usually do not have any symptoms of the disease.

There are different types of SMA, ranging from severe to mild. The severity of the disease depends on the number of copies of the SMN2 gene that a person has. SMN2 is a nearly identical copy of SMN1, but it produces only a small amount of functional SMN protein. More copies of SMN2 genes usually result in milder forms of SMA.

Genetic testing can be done prior to birth (prenatal testing) or after birth. Prenatal testing involves obtaining a sample of fetal cells to analyze the DNA for mutations. In postnatal testing, a blood or saliva sample is usually collected from the patient and sent to a laboratory for analysis.

If a person is diagnosed with SMA through genetic testing, they can receive appropriate medical care, resources, and support. Genetic counselors can provide information and guidance to patients and their families about the condition, its inheritance pattern, and available treatment options.

It is important to note that genetic testing has some limitations. Not all mutations that cause SMA can be identified through standard testing methods. In rare cases, a person may have a clinical diagnosis of SMA but may not have a detectable mutation. In such cases, further genetic testing or research studies may be necessary to determine the underlying cause.

Genetic testing for SMA is available in many countries and is often covered by insurance. It is recommended that individuals with a family history of SMA or those who have symptoms consistent with the condition consult with a healthcare professional or genetic counselor to discuss the appropriate testing options.

For more information about genetic testing for SMA, you can visit the websites of advocacy organizations, such as the Spinal Muscular Atrophy Foundation and Cure SMA. Additionally, resources like OMIM (Online Mendelian Inheritance in Man) and clinicaltrials.gov can provide information on ongoing research studies and clinical trials related to SMA.

References:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an invaluable resource for individuals and families affected by rare genetic conditions. GARD provides up-to-date information about various genetic diseases, including Spinal Muscular Atrophy (SMA).

SMA is a genetic condition that affects the motor neurons in the spinal cord. It is caused by a mutation in the survival motor neuron 1 (SMN1) gene, which is autosomal recessive. This means that individuals with SMA inherit two copies of the mutated gene, one from each parent.

There are several types of SMA, with the most severe form being Werdnig-Hoffmann disease. The severity of the condition varies depending on the number of copies of a closely related gene, SMN2, that are present. SMA leads to progressive muscle weakness and atrophy, resulting in difficulties with movement and mobility.

GARD provides information on the symptoms, diagnosis, and treatment options for SMA. It also offers resources for individuals and families to learn more about the condition and find support. The center’s website contains articles, a catalog of genetic diseases, and links to additional resources and research on SMA.

For those interested in scientific research on SMA, GARD provides citations and links to articles in PubMed. This allows individuals to access the latest research and stay informed about advancements in the field.

In addition to providing information, GARD also helps individuals and families find clinical trials for SMA. Clinical trials are vital for advancing research and developing new treatments for rare diseases. GARD’s website includes a search tool that allows users to find ongoing clinical trials for SMA.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by SMA. It provides comprehensive information, support, and access to resources that can aid in understanding and managing this rare condition.

Patient Support and Advocacy Resources

Spinal muscular atrophy (SMA) is a rare genetic condition that causes the progressive weakness and degeneration of the muscles. It is caused by mutations in the SMN1 gene, which is responsible for producing a protein that is crucial for the survival of motor neurons. There are several types of SMA, with the most severe form being Werdnig-Hoffmann disease.

Patients with SMA often require support and resources to help them cope with their condition. There are various organizations and centers that provide information, support, and advocacy for individuals and families affected by SMA.

  • Spinal Muscular Atrophy Foundation (SMA Foundation) – This organization is dedicated to funding research studies and finding a cure for SMA. They provide resources, support, and educational materials for individuals and families affected by the condition.
  • SMA Support UK – This is a charity organization that provides support, information, and resources for individuals and families affected by SMA in the United Kingdom. They offer a helpline, online forums, events, and educational resources.
  • The Cure SMA – This organization is focused on supporting and advocating for individuals and families affected by SMA. They provide resources, support, and information about clinical trials, research, and treatment options.
  • The International Alliance of ALS/MND Associations – This global organization provides support, resources, and advocacy for individuals and families affected by motor neuron diseases, including SMA. They have a database of references and additional information on SMA.
See Also:  KBG syndrome

In addition to these organizations, there are several online forums, support groups, and social media communities where individuals and families can connect, share experiences, and provide support to one another.

It is important for individuals with SMA and their families to stay informed about the latest research, clinical trials, and treatment options. ClinicalTrials.gov and PubMed are valuable resources for finding articles and research studies related to SMA. These resources can provide valuable information about the disease, management strategies, and potential treatments.

Furthermore, individuals and families affected by SMA can find information about genetic counseling, carrier testing, and inheritance patterns on the Online Mendelian Inheritance in Man (OMIM) website. This resource provides summaries and references for various genetic conditions, including SMA.

By staying informed and connected with patient support organizations and advocacy groups, individuals and families affected by SMA can access the necessary resources, support, and information to help them stand strong in the face of this challenging condition.

Research Studies from ClinicalTrialsgov

Spinal muscular atrophy (SMA) is a rare genetic condition that affects the motor neurons in the spinal cord, resulting in muscle weakness. SMA can be classified into different types based on the age of onset and severity of symptoms. The most severe form of SMA is Type 1, which typically affects infants and prevents them from being able to move their muscles without assistance.

The most common cause of SMA is a mutation in the SMN1 gene, which is responsible for producing the survival motor neuron (SMN) protein. This protein is essential for the maintenance and function of motor neurons. Individuals with SMA have a deletion or mutation in the SMN1 gene, which leads to a deficiency of the SMN protein.

There is another closely related gene called SMN2, which is nearly identical to SMN1. However, a specific genetic difference in SMN2 results in a less efficient production of the SMN protein. The number of copies of SMN2 in an individual can influence the severity of SMA symptoms, with a higher number of copies associated with milder symptoms.

Research studies, conducted by ClinicalTrialsgov, are aimed at understanding the underlying causes of SMA and developing potential treatments for the disease. These studies involve testing various therapies and interventions to improve muscle strength and function in SMA patients.

Prior to the availability of these clinical trials, treatment options for SMA were limited. However, recent advances in genetics and research have resulted in the development of several experimental treatments. These include gene replacement therapy, small molecule drugs, and antisense oligonucleotides.

ClinicalTrialsgov is a comprehensive database that catalogues ongoing and completed research studies in different medical fields, including SMA. By accessing this database, patients and their families can find information about ongoing clinical trials and potential treatment options for SMA.

In addition to clinical trials, patient advocacy groups and support centers play a crucial role in raising awareness and supporting individuals with SMA. These organizations provide valuable resources, support services, and patient education materials for individuals and families affected by this rare condition.

The information provided on ClinicalTrialsgov can be used by healthcare professionals, researchers, and individuals seeking more information about SMA and related research studies. It serves as a valuable resource for staying updated on the latest advancements in SMA research.

References:

  1. Schmelzer L, et al. Genetic Counseling for Spinal Muscular Atrophy in the Newborn Period: A Pilot Program. J Genet Couns. 2020 Dec; 29(6): 1237–1246.
  2. Online Mendelian Inheritance in Man (OMIM) website. Spinal Muscular Atrophy; SMA. Accessed on August 30, 2022. Available at: https://www.omim.org/entry/253300.
  3. Mendell JR, et al. Evidence-Based Path to Newborn Screening for Spinal Muscular Atrophy. J Neuromuscul Dis. 2021;8(1):7-23.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases that provides information about various genetic disorders. It is a valuable resource for researchers, clinicians, and patients, offering in-depth knowledge about the causes, inheritance patterns, and clinical manifestations of different diseases.

The catalog contains information about a wide range of diseases, including spinal muscular atrophy (SMA). SMA is a rare genetic condition characterized by the progressive loss of muscle strength and atrophy (wasting) of the proximal muscles. It is typically inherited in an autosomal recessive manner.

OMIM provides detailed information about the genes associated with SMA, particularly the SMN1 and SMN2 genes. Mutations in the SMN1 gene, which encodes survival motor neuron protein, are the main cause of SMA. The number of copies of the SMN2 gene in an individual also plays a role in the severity of the condition.

OMIM references scientific articles and studies from PubMed, providing access to additional information on SMA and other related diseases. It is a valuable tool for researchers looking to learn more about the genetic basis of SMA and its associated clinical features.

OMIM also supports the research community by providing resources such as clinicaltrials.gov, where ongoing clinical trials for SMA and other diseases can be found. This helps patients and their families to stay informed about the latest research and potential treatment options.

In summary, the OMIM catalog is a comprehensive resource for information about genes and diseases. It provides access to scientific articles, clinical trials, and other relevant resources, making it an invaluable tool for researchers, clinicians, and patients interested in understanding genetic disorders such as spinal muscular atrophy.

Scientific Articles on PubMed

Spinal muscular atrophy (SMA) is a rare genetic condition characterized by the degeneration of motor neurons in the spinal cord, resulting in progressive muscle weakness and atrophy.

There are multiple types of SMA, classified based on the severity and age of onset. The most common form is SMA type 1, also known as Werdnig-Hoffmann disease, which typically presents in infants and is the most severe form of the condition. SMA type 2 and type 3 are milder forms, with symptoms appearing later in childhood or adulthood.

The underlying cause of SMA is a mutation in the SMN1 gene, which is responsible for producing a protein called survival motor neuron (SMN) that is essential for the survival and function of motor neurons. SMA is inherited in an autosomal recessive manner, meaning that affected individuals have two copies of the mutated SMN1 gene.

Research on SMA has identified the SMN2 gene as a potential modifier of the disease severity. SMN2 is a nearly identical copy of SMN1, but it produces much less functional SMN protein. The number of copies of the SMN2 gene varies among individuals and can influence the severity of the condition.

Scientific articles related to SMA can be found on PubMed, a database of biomedical literature. PubMed is a valuable resource for finding research articles, clinical trials, and other publications on SMA.

Some of the topics covered in these articles include:

  • Genetics and inheritance patterns of SMA
  • Clinical trials and treatment options for SMA
  • Mechanisms and causes of motor neuron degeneration in SMA
  • Functional and structural abnormalities in SMA patients
  • Advocacy and support resources for those affected by SMA

References to scientific articles on PubMed can provide valuable information for healthcare professionals, researchers, and families affected by SMA. These articles contribute to our understanding of the disease, its causes, and potential treatment options.

Additionally, clinicaltrialsgov is another valuable resource for finding ongoing clinical trials and research studies focused on SMA. These studies aim to further our understanding of the condition and develop new therapies or interventions to improve the lives of SMA patients.

Overall, the scientific articles available on PubMed and the ongoing research highlighted on clinicaltrialsgov provide a wealth of knowledge and resources for learning about SMA, supporting patients and families, and advancing research and treatment options for this rare and debilitating condition.

References

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