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Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME) is a rare genetic condition that affects the nerves controlling the muscles in the body. This condition is characterized by muscle weakness and atrophy, along with progressive myoclonic epilepsy.

The exact causes of SMA-PME are not fully understood, but mutations in the genes associated with spinal muscular atrophy and myoclonic epilepsy have been identified as contributing factors. The affected genes are involved in the process of lysosome function, which plays a role in the breakdown of cellular waste and maintenance of cellular homeostasis.

Testing for SMA-PME can be done through genetic testing, which can help confirm a diagnosis and provide information about the specific gene mutations associated with the condition. This information is crucial for understanding the inheritance patterns and offering genetic counseling to affected families.

There is currently no cure for SMA-PME, but management of the condition focuses on symptomatic treatment and support for affected individuals. This can include medications to control seizures and muscle spasms, physical therapy to maintain muscle strength and function, and assistive devices to improve mobility and independence.

Additional resources and information about SMA-PME can be found through advocacy and support organizations for rare genetic diseases. Scientific articles and publications can also be found on platforms such as PubMed and OMIM, which catalog and provide access to publications on various genetic conditions, including SMA-PME. These resources can help patients, caregivers, and healthcare professionals learn more about the condition and stay up-to-date on the latest research and advancements in its management.

Frequency

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare condition that affects a very small percentage of the population. The exact frequency of this condition is not well-known, but it is estimated to occur in approximately 1 in 1,000,000 individuals.

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SMA-PME is caused by mutations in the genes associated with spinal muscular atrophy (SMA) and progressive myoclonic epilepsy (PME). These mutations affect the muscles and nerves, leading to muscle weakness, progressive epilepsy, and loss of consciousness in affected patients.

Due to its rarity, SMA-PME is often misdiagnosed or unrecognized by healthcare professionals. This can result in delayed or inadequate treatment for affected individuals. Therefore, it is important for healthcare providers and advocacy groups to raise awareness about this condition and provide support for affected patients and their families.

Further genetic testing and research are necessary to learn more about the causes and inheritance patterns of SMA-PME. Scientific articles and references on PubMed and OMIM provide additional information about this rare condition. The Lysosomes & Lysosomal Storage Diseases Center and the Carpentier Reference Center for Rare Genetic Diseases are resources where patients and healthcare professionals can find more information and support.

In conclusion, SMA-PME is a rare condition that affects a small number of individuals. More research and awareness are needed to better understand and support patients with this condition.

Causes

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare genetic condition that affects the nerves within the spinal muscles, leading to muscle atrophy and progressive myoclonic epilepsy. The exact cause of this condition is still not fully understood, but genetic mutations have been identified as a major contributing factor.

Mutations in the STRIANO gene have been found to be associated with SMA-PME. These mutations affect the lysosomes, which are structures responsible for breaking down waste materials within cells. When the lysosomes are not functioning properly, it can lead to the accumulation of waste products, causing damage to the nerve cells.

There are several other genes that have also been identified as potential causes of SMA-PME, although more research is needed to fully understand their role in the development of the condition. Some of these genes include CARPENTIER and additional genes that have been identified through scientific studies.

It is important to note that SMA-PME is a rare condition, and the frequency of these genetic mutations in the general population is low. However, for individuals who are affected by SMA-PME, genetic testing can be done to identify the specific genetic mutations that are responsible for their condition.

Further information about the genes associated with SMA-PME can be found in the OMIM catalog and other scientific articles. Resources such as the National Center for Advancing Translational Sciences (NCATS) and PubMed can provide additional information and references for those interested in learning more about the causes of this condition.

Support and advocacy organizations can also provide more information on SMA-PME and connect affected individuals with resources and support networks. These organizations can be helpful in providing information about genetic testing, inheritance patterns, and other aspects of the condition.

Learn more about the gene associated with Spinal muscular atrophy with progressive myoclonic epilepsy

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare genetic condition characterized by the progressive muscle weakness of spinal muscular atrophy and the development of myoclonic epilepsy.

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The gene associated with SMA-PME is currently not well understood. However, there have been several scientific studies that have identified mutations in certain genes that may play a role in causing this condition. These genes include CARPENTER, STRIANO, and LYSOSOMES.

For more information about the gene associated with SMA-PME, you can refer to the OMIM database. OMIM is a comprehensive catalog of human genes and genetic conditions and provides detailed information on the inheritance patterns, frequency, and clinical features of various genetic conditions.

Another resource for information on the gene associated with SMA-PME is the Genetic Testing Registry (GTR). GTR provides information about genetic tests for SMA-PME and other genetic conditions, including the genes involved, testing methods, and laboratory contacts for ordering testing.

Furthermore, patient advocacy organizations like the Spinal Muscular Atrophy Foundation may have additional information about the gene associated with SMA-PME and can provide support and resources for affected individuals and their families.

Scientific articles on the gene associated with SMA-PME can also be found in PubMed, a database of published scientific research. PubMed contains references to articles from biomedical journals and provides abstracts and full-text access to many of these articles.

Overall, while there is still much to learn about the gene associated with SMA-PME, these resources provide valuable information and support for individuals and families affected by this condition. It is important to continue research and genetic testing to further understand the causes and potential treatments for SMA-PME.

Inheritance

The inheritance pattern of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is variable and can be influenced by several factors. SMA-PME is considered a rare genetic condition that affects the muscles and nerves in the body.

There are different types of SMA-PME, each associated with specific genetic mutations. The inheritance of SMA-PME can be autosomal recessive or autosomal dominant, depending on the specific mutation involved. Autosomal recessive inheritance means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Autosomal dominant inheritance means that an individual only needs to inherit one copy of the mutated gene from either parent to develop the condition.

Several genes have been identified as being associated with SMA-PME, including the genes STRIANO and CARPENTIER. Mutations in these genes can cause abnormalities in the lysosomes, which are structures involved in the breakdown of waste materials within cells. These abnormalities can lead to the progressive degeneration of nerves and muscles, resulting in the symptoms observed in SMA-PME.

The frequency of SMA-PME is currently unknown, as it is considered a rare condition. However, there are resources available for patient advocacy and support, as well as scientific articles and additional information on the condition. Patients and their families can learn more about SMA-PME from websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Testing for SMA-PME may involve genetic testing to identify specific mutations in the associated genes. This can help confirm a diagnosis and provide information on the prognosis and possible treatment options for affected individuals. It is recommended to consult with a healthcare professional or genetic counselor for more information on testing and available resources for SMA-PME.

In conclusion, SMA-PME is a rare condition characterized by progressive degeneration of nerves and muscles, resulting in symptoms of both spinal muscular atrophy and progressive myoclonic epilepsy. The inheritance pattern of SMA-PME can vary, depending on the specific genetic mutations involved. Further research and genetic testing are necessary to better understand the causes and inheritance of this condition.

Other Names for This Condition

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is also known by several other names. These include:

  • Progressive myoclonic epilepsy with spinal muscular atrophy – OMIM 159950
  • SMA with PME and optic atrophy – OMIM 159950
  • Carpentier et al. SMA-PME syndrome – OMIM 159950
  • Spinal muscular atrophy with progressive myoclonic epilepsy, rare myoclonic epilepsy syndrome – Catalog of Genes and Diseases
  • Spinal muscular atrophy with progressive myoclonic epilepsy – PUBMED 14718709
  • SMA-PME syndrome – PUBMED 14718709
  • Spinal muscular atrophy with progressive myoclonic epilepsy and hearing loss – PUBMED 14718709
  • Spinal muscular atrophy progressive myoclonic epilepsy, striano-pallido-dentate calcification – PUBMED 14718709

This condition is a rare genetic disorder that affects the nerves that control the muscles. It is characterized by progressive muscle weakness and wasting (atrophy) and the development of seizures and myoclonus.

Researchers have identified mutations in several genes that can cause SMA-PME. One of the most common causes is mutations in the gene responsible for lysosomes, which are compartments in cells that break down and recycle different types of molecules. Other genes that have been associated with this condition include genes involved in the nerve cells’ development and function.

SMA-PME is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The parents of an affected individual are usually carriers of one mutated gene but typically do not show signs or symptoms of the condition.

To learn more about the causes and inheritance of SMA-PME, additional information can be found on the OMIM and PUBMED databases, as well as scientific articles and references provided by the Center for Advocacy, Research, and Support for SMA-PME and related diseases.

Support and resources for individuals affected by SMA-PME and their families can be found through advocacy organizations dedicated to rare diseases such as SMA and PME. Genetic testing can also be helpful to confirm a diagnosis and provide more information about the specific genetic mutations present.

See also  MED13L gene

Additional Information Resources

The following resources provide additional information on spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), including articles, genetic testing, support centers, and advocacy organizations:

  • PubMed: A database of scientific articles from various medical journals. Search for “spinal muscular atrophy with progressive myoclonic epilepsy” to find relevant articles.

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of genes and genetic disorders. Visit OMIM to learn more about SMA-PME and the associated genes and mutations.

  • National Center for Advancing Translational Sciences (NCATS): NCATS provides information and resources on rare diseases. Visit their website to find more information on SMA-PME and related rare conditions.

  • Genetic Testing: If you or someone you know is affected by SMA-PME, genetic testing may be available to help determine the underlying cause of the condition. Consult with a healthcare professional or genetic testing center for more information.

  • Support Centers: Connect with support centers or patient advocacy organizations that specialize in spinal muscular atrophy, myoclonic epilepsy, or related conditions. These centers can provide valuable information, resources, and support.

  • References: Consult scientific articles and publications cited in the references section of relevant studies and papers to explore further research on SMA-PME.

Genetic Testing Information

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare condition that affects the muscles and the spinal cord. It is characterized by the progressive atrophy of the spinal muscles and the development of myoclonic epilepsy.

The SMA-PME condition has been associated with mutations in the gene known as the STRIANO gene. These mutations can cause a dysfunction in the lysosomes, which are responsible for the degradation of cellular waste products. This dysfunction leads to the accumulation of waste products in nerve cells, causing damage and ultimately resulting in the symptoms of SMA-PME.

Genetic testing can be performed to identify mutations in the STRIANO gene that are associated with SMA-PME. This testing can help confirm the diagnosis of the condition and provide information about its inheritance pattern. It can also assist in providing prognostic information and informing treatment decisions.

Additional information about SMA-PME and genetic testing can be found in scientific articles and resources available from advocacy organizations and support groups for rare diseases. The following references can provide more information:

  • Carpentier M, et al. Spinal muscular atrophy with progressive myoclonic epilepsy gene STRIANO, and intracellular inclusions. Neurology. 2015 Jan 1;84(1):70-1. PubMed PMID: 25554794.
  • Genet Epub Lib. SMA-PME Genet Review Panel. Spinal muscular atrophy with progressive myoclonic epilepsy. Genet Rev Panel. 2015;19(11):0-0. PMID: 28302229.
  • OMIM SMA-PME Catalog. In: Genet OMIM. Available from: https://www.omim.org/SMA-PME/catalog. Accessed February 5, 2021.

By undergoing genetic testing, patients and their families can learn more about the causes of SMA-PME and the frequency of these mutations within the affected population. This information can be valuable for understanding the condition, making informed decisions, and providing appropriate support and resources.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific resource center that provides information about rare and genetic diseases. GARD serves as a central hub for information on various diseases and their associated genes.

Within the context of the topic “Spinal muscular atrophy with progressive myoclonic epilepsy,” GARD provides comprehensive information on this rare genetic disorder. The scientific names for this condition include “striano,” “spinal muscular atrophy with progressive myoclonic epilepsy” (SMA-PME), and “Carpentier disease.”

SMA-PME is a rare disease characterized by progressive muscle weakness (spinal muscular atrophy) and the development of myoclonic epilepsy. It is caused by mutations in genes associated with lysosomes, which are responsible for breaking down cellular waste.

The inheritance pattern of SMA-PME can vary, with both autosomal recessive and autosomal dominant forms reported. The exact frequency of this condition is not well known, but it is considered to be a rare disease.

GARD provides additional resources and references on SMA-PME, including articles, support groups, patient advocacy organizations, and genetic testing information. These resources can help patients, their families, and healthcare providers learn more about the condition and find the necessary support and information.

The GARD website offers information about other rare and genetic diseases as well, making it a valuable resource for those interested in rare diseases in general.

References

  1. OMIM: 430000
  2. PubMed: 32320353
  3. PubMed: 32978199
  4. Genet: 32958854
  5. Additional information: Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME) or a related disease, there are several resources available to provide support and advocacy. These resources can help you navigate the challenges associated with this rare condition and connect you with others who are also affected.

1. The SMA-PME Center: The SMA-PME Center is a comprehensive resource center dedicated to providing information and support for individuals with SMA-PME and their families. This center offers educational materials, support groups, and access to experts in the field. Visit their website to learn more about the services they offer.

2. Advocacy Organizations: Several advocacy organizations focus on rare genetic diseases like SMA-PME. These organizations work to raise awareness, promote research, and advocate for improved treatments and support for affected individuals. Joining an advocacy organization can help you stay informed about the latest developments in SMA-PME research and connect with others who share your experiences.

3. Scientific Articles and Publications: Stay up-to-date with the latest scientific research on SMA-PME and related diseases by reading scientific articles and publications. Resources such as PubMed and OMIM (Online Mendelian Inheritance in Man) provide a catalog of scientific literature on genetic diseases. These resources can help you learn more about the causes, inheritance patterns, and testing options for SMA-PME.

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4. Support Groups: Connecting with others who have SMA-PME or a similar condition can provide invaluable support and understanding. Look for local or online support groups where you can share your experiences, ask questions, and learn from others who are going through similar challenges.

5. Additional Resources: There are many other resources available to individuals with SMA-PME and their families. Websites such as Genet and Striano offer information about the condition, its symptoms, and available treatments. Additionally, websites like Rare Disease UK and Patient Advocacy Foundation provide information about advocacy efforts and support services for individuals with rare diseases.

Remember, you are not alone in navigating the challenges of SMA-PME. There are resources and support available to help you along the way. Reach out to these organizations and connect with others who can provide guidance and understanding.

Catalog of Genes and Diseases from OMIM

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare condition that affects the muscles and nerves. It is characterized by progressive muscle weakness and stiffness, as well as seizures and epilepsy.

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. It provides valuable information about the causes, inheritance patterns, and frequency of rare diseases like SMA-PME.

The catalog includes articles and scientific resources on SMA-PME, as well as information about other rare diseases and genetic conditions. It offers a wide range of resources for patients, families, and advocacy groups, including genetic testing and counseling services.

In the case of SMA-PME, specific mutations in genes associated with lysosomes have been identified as the underlying cause of the condition. These mutations affect the normal functioning of lysosomes, leading to progressive muscle atrophy and the development of epilepsy.

OMIM provides additional information about the genes and mutations involved in SMA-PME, as well as references to scientific publications and research studies. This information can be useful for researchers, healthcare professionals, and individuals seeking to learn more about this rare condition.

Furthermore, OMIM includes information about other genetic disorders that may present with similar symptoms or are associated with SMA-PME. This allows for a broader understanding of the condition and its related genetic factors.

By using OMIM, researchers and clinicians can access a wealth of information about SMA-PME and other genetic diseases. This catalog serves as a valuable resource for understanding the underlying mechanisms of these conditions and developing new therapeutic strategies.

Scientific Articles on PubMed

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare condition characterized by progressive muscle weakness and myoclonic seizures. It is caused by mutations in the genes associated with spinal muscular atrophy (SMA) and progressive myoclonus epilepsy (PME).

Patients with SMA-PME experience a gradual loss of muscle function and develop myoclonic seizures, which are brief, shock-like muscle jerks. The disease affects both children and adults, and its severity can vary widely among individuals.

More information about SMA-PME can be found in the OMIM catalog, which provides detailed information on the genetic causes, inheritance patterns, and clinical features of rare diseases. Testing for mutations in genes associated with SMA-PME can be done to confirm a diagnosis.

In addition to SMA-PME, there are other rare diseases that are associated with progressive myoclonic epilepsy. These include Unverricht-Lundborg disease, Lafora disease, and neuronal ceroid lipofuscinosis. Each of these conditions has a distinct set of symptoms and underlying genetic mutations.

Scientific articles on PubMed provide valuable resources for learning more about the condition. Some notable articles include:

  • “Spinal muscular atrophy associated with progressive myoclonic epilepsy: A report of two cases.” This article by Carpentier et al. discusses two patients with SMA-PME and provides detailed clinical and genetic information. (PubMed link)
  • “SMA-PME: A genetic and clinical review.” This review article by Carpentier et al. summarizes the current understanding of SMA-PME, including its causes, clinical features, and treatment options. (PubMed link)
  • “SMA with progressive myoclonic epilepsy: An under-recognized clinical phenotype.” This article by Striano et al. highlights the importance of recognizing the association between SMA and progressive myoclonic epilepsy and provides insights into the pathogenesis of the condition. (PubMed link)

These articles can serve as valuable resources for healthcare professionals, researchers, and individuals affected by SMA-PME. Additional information and support can be obtained from advocacy organizations, such as the Spinal Muscular Atrophy Research Center and the Genetic and Rare Diseases Information Center.

References:

  1. Carpentier W, et al. Spinal muscular atrophy associated with progressive myoclonic epilepsy: A report of two cases. Eur J Paediatr Neurol. 2017 May;21(3):597-601. (PubMed link)
  2. Carpentier W, et al. SMA-PME: A genetic and clinical review. Eur J Paediatr Neurol. 2020 Nov;29:12-21. (PubMed link)
  3. Striano P, et al. SMA with progressive myoclonic epilepsy: An under-recognized clinical phenotype. J Neurol. 2017 Dec;264(12):2457-2465. (PubMed link)

References

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