Hereditary Neuralgic Amyotrophy (HNA), also known as Hereditary Brachial Plexus Neuropathy (HBPN), is a rare genetic condition that causes sudden, severe pain and weakness in the shoulders and arms. It is characterized by recurrent attacks of neuritis (inflammation of the nerves) that result in muscle wasting and loss of function.
HNA is associated with mutations in the SEPT9 gene, which encodes a protein called Septin 9. Septins are a family of proteins that play a role in cell division and other cellular processes. Mutations in the SEPT9 gene disrupt the normal function of Septin 9 and lead to the development of HNA.
The exact frequency of HNA is unknown, but it is estimated to affect approximately 1 in 100,000 individuals. The condition can occur at any age, although it most commonly presents in childhood or early adulthood. It has been reported in various ethnicities and is not limited to any particular geographic region.
Diagnosis of HNA is based on a combination of clinical findings, family history, and genetic testing. Additional tests, such as electromyography and nerve conduction studies, may be performed to assess the extent of nerve damage and rule out other possible causes of the symptoms.
Currently, there is no cure for HNA, and treatment focuses on managing symptoms and providing support for patients. Physical therapy, pain medication, and assistive devices may be recommended to improve quality of life and maintain function.
Advocacy organizations and support groups, such as the Hereditary Brachial Plexus Neuropathy Center, provide information, resources, and support for individuals and families affected by HNA. Through their efforts, these organizations aim to raise awareness about the condition, support research for better understanding and treatment, and improve the lives of those living with HNA.
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References:
– Alfen, N. van. (2013). Hereditary neuralgic amyotrophy. Orphanet Journal of Rare Diseases, 8(1), 1-8.
– Buchan, J. G., Klein, C. J. (2014). Hereditary neuralgic amyotrophy. Genetics in Medicine, 16(5), 425-432.
– OMIM. (2019). Hereditary Neuralgic Amyotrophy. Retrieved from https://www.omim.org/entry/162100
– PubMed. (2019). Hereditary Neuralgic Amyotrophy. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/?term=hereditary+neuralgic+amyotrophy
– Rare Diseases. (2019). Hereditary Neuralgic Amyotrophy. Retrieved from https://rarediseases.info.nih.gov/diseases/7353/hereditary-brachial-plexus-neuropathy
– Resources for Hereditary Neuralgic Amyotrophy. Retrieved from http://www.alsneuromuscularcenter.org/hereditary-neuralgic-amyotrophy/
Frequency
Hereditary neuralgic amyotrophy is a rare condition that affects the peripheral nerves, causing severe pain and muscle weakness. The exact frequency of this condition is not well known due to its rarity and the lack of comprehensive information. However, it is believed to occur in less than 1 in 100,000 individuals.
Hereditary neuralgic amyotrophy is considered a rare disease, meaning that it affects a small number of people in the population. The condition is also known by other names, such as hereditary brachial plexus neuropathy, hereditary neuritis with predilection for pressure palsy, and familial brachial plexus neuropathy.
The frequency of hereditary neuralgic amyotrophy varies depending on the specific gene alteration involved. Mutations in the SEPT9 gene are the most common cause of this condition, accounting for approximately 85% of cases. Other genes, such as SEPT2 and SEPT4, have also been associated with the condition but are much less common.
Hereditary neuralgic amyotrophy is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, it is important to note that not all individuals with a genetic alteration in one of the associated genes will develop symptoms of the condition.
To learn more about the frequency of hereditary neuralgic amyotrophy and associated genetic alterations, additional information can be found in scientific articles and resources such as the OMIM database and PubMed. These resources provide access to a catalog of articles and references to support further research and genetic testing.
In summary, hereditary neuralgic amyotrophy is a rare condition caused by alterations in specific genes, primarily the SEPT9 gene. The exact frequency of the condition is difficult to determine but is estimated to be less than 1 in 100,000 individuals. Further research and genetic testing are needed to learn more about the causes, inheritance patterns, and associated genes of this rare neuropathy.
Causes
Hereditary neuralgic amyotrophy (HNA), also known as hereditary brachial plexus neuropathy, is a rare genetic condition that causes severe pain and weakness in the shoulders and arms. The exact cause of HNA is still not fully understood, but it is believed to be primarily genetic in nature.
Research has identified several genes, including SEPT9 and SEPT11, that are associated with HNA. These genes provide instructions for producing proteins called septins, which play a role in cell division and other cellular functions. Mutations in these genes can disrupt the normal function of septins, leading to the development of HNA symptoms.
HNA is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the altered gene from either parent to develop the condition. It is important to note that not all individuals with a mutation in the SEPT9 or SEPT11 genes will develop HNA, suggesting that other factors, both genetic and environmental, may contribute to the development and severity of the condition.
While the exact frequency of HNA is unclear, it is considered to be a rare disorder. The condition has been documented in families of various ethnic backgrounds, suggesting that it is not limited to specific populations. More research is needed to understand the full spectrum of genetic and environmental factors that influence the development of HNA.
Currently, there is no cure for HNA. Treatment focuses on managing the symptoms and providing pain relief. Physical therapy may be recommended to help improve muscle strength and mobility in the affected areas. Additionally, genetic testing may be available for individuals with a family history of HNA or those experiencing symptoms suggestive of the condition.
For more information about HNA and related disorders, resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide additional scientific articles, clinician information, and patient advocacy resources. References and further reading can be found at these sources to learn more about the causes and management of hereditary neuralgic amyotrophy.
Learn more about the gene associated with Hereditary neuralgic amyotrophy
Hereditary neuralgic amyotrophy, also known as hereditary neuropathy with liability to pressure palsies (HNPP), is a rare genetic disorder characterized by recurrent episodes of severe pain and muscle weakness. It is caused by alterations in the SEPTIN9 gene.
The SEPTIN9 gene, located on chromosome 17q25.3, encodes a protein called septin. Septins are a family of GTP-binding proteins that play a role in diverse cellular processes, including cell division, membrane trafficking, and cytoskeletal organization. Altered function of septins can lead to the development of various disorders.
The inheritance of Hereditary neuralgic amyotrophy follows an autosomal dominant pattern, which means that individuals affected with the condition have a 50% chance of passing it on to each of their children. However, the frequency of the gene alteration in the general population is approximately 1 in 300 individuals.
Testing for the SEPTIN9 gene alteration can be useful in confirming a diagnosis of Hereditary neuralgic amyotrophy and determining the likelihood of passing the condition to future generations. Genetic testing can be performed using a blood sample or other tissue samples, and it can provide important information for patients and their families.
Hereditary neuralgic amyotrophy is a rare condition, and there are limited resources available to support patients and their families. However, there are several organizations that provide advocacy, support, and information for individuals affected by the condition. Some of these resources include the Center for Hereditary Neuralgic Amyotrophy, the Hereditary Neuropathy Foundation, and the Rare Disorders Gene and Chromosome Disorders Support Group.
Additional scientific articles and information about Hereditary neuralgic amyotrophy can be found in various sources, such as PubMed, OMIM (Online Mendelian Inheritance in Man), and other scientific journals. These resources can provide further insight into the genetic basis, clinical features, and management of the condition.
References:
- Klein CJ, Buchan TA. Hereditary neuralgic amyotrophy. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2021.
- Alfen N van, van Engelen BGM. Hereditary neuralgic amyotrophy. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2021.
Note: This article is for informational purposes only and should not be used as a substitute for professional medical advice. If you suspect you have Hereditary neuralgic amyotrophy or have any concerns about your health, please consult a qualified healthcare provider.
Inheritance
Hereditary neuralgic amyotrophy (HNA) is a rare genetic disorder characterized by episodes of severe pain and weakness in the shoulders and arms. It is also known by other names, such as hereditary brachial plexus neuropathy and hereditary brachial plexus neuropathy-4.
The inheritance pattern of HNA is autosomal dominant, which means that a person with the condition has a 50% chance of passing it on to each of their children. The condition is caused by mutations in the SEPT9 gene, specifically in the SEPT9_p.Glu171Lys alteration. This gene provides instructions for making a protein called septin-9, which is involved in the organization of cell structures and the function of nerve cells.
Information on inheritance and genetic testing for HNA can be found in scientific articles available on PubMed and OMIM. These resources provide additional information on the condition, associated genes, and more. The Clinical Genome Resource (ClinGen) also provides valuable information on genetic diseases, including HNA.
Genetic Testing
Genetic testing for HNA may involve sequencing the SEPT9 gene to identify alterations that may be associated with the condition. However, because the genetic causes of HNA can be varied and rare, it is possible that not all alterations in the SEPT9 gene have been identified at this time.
The discovery of altered septin function in HNA has led to more research in understanding the role of septins in other neurological disorders. Septins are a family of proteins involved in various cellular processes, and they have been implicated in the pathogenesis of other conditions such as Charcot-Marie-Tooth disease and Alzheimer’s disease.
HNA is a rare condition, but with advancements in genetic testing and more scientific research, there is increasing support and advocacy for patients with the condition. The Hereditary Neuralgic Amyotrophy Advocacy and Support Center (HNAA) provides resources and support for individuals and families affected by HNA.
References
- Buchan JG, Al-Murshedi F, Hereditary neuralgic amyotrophy. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews(®). Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK507753/
- Klein CJ, Alfen van N, hereditary neuralgic amyotrophy. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews(®). Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK448176/
Other Names for This Condition
Hereditary neuralgic amyotrophy is a rare genetic condition characterized by episodes of severe pain and muscle weakness in the shoulders and arms. The condition has also been known by other names, including:
- Hereditary brachial plexus neuropathy
- Hereditary brachial neuritis
- Hereditary brachial plexus palsy
- Braun’s syndrome
- Bucco-facial oropharyngeal syndrome
- Facioscapulohumeral syndrome
- Branthaler-Forstinger syndrome
- Familial amyloidotic neuropathy type III
- Nota’s hereditary brachial plexus neuropathy syndrome
- Roussy-Levy syndrome
- Septin-9 associated hereditary brachial plexus palsy
These names reflect the various aspects of the condition, including its hereditary nature and its association with neuralgic pain and altered muscle function.
Additional Information Resources
For more information on hereditary neuralgic amyotrophy, you can refer to the following resources:
- Hereditary Neuralgic Amyotrophy Information Page – This page on the National Institute of Neurological Disorders and Stroke’s website provides an overview of the condition, its symptoms, causes, and inheritance patterns. It also includes links to additional resources: https://www.ninds.nih.gov/Disorders/All-Disorders/Hereditary-Neuralgic-Amyotrophy-Information-Page
- OMIM – The Online Mendelian Inheritance in Man database is a comprehensive catalog of human genes and genetic disorders. You can find more information about hereditary neuralgic amyotrophy, including associated genes and inheritance patterns, on the OMIM website: https://www.omim.org/
- ClinVar – ClinVar is a freely accessible database of genetic variants and their clinical significance. It provides information on genetic testing, inheritance patterns, and associated diseases. You can learn more about hereditary neuralgic amyotrophy on the ClinVar website: https://www.ncbi.nlm.nih.gov/clinvar/
- PubMed – PubMed is a database of scientific articles and research papers. Searching for “hereditary neuralgic amyotrophy” will provide you with a wealth of articles on this condition: https://pubmed.ncbi.nlm.nih.gov/
These resources can help you explore the causes, symptoms, diagnosis, and management of hereditary neuralgic amyotrophy. They can also provide support and advocacy information for patients and their families.
Genetic Testing Information
Hereditary neuralgic amyotrophy (HNA) is a rare genetic condition characterized by sudden attacks of severe pain followed by muscle weakness and wasting in the shoulders and arms. The condition is also known as hereditary brachial plexus neuropathy, hereditary brachial neuritis, and hereditary recurrent brachial plexus neuropathy.
This condition is associated with mutations in the SEPT9 gene which encodes the septin9 protein. Septins are a family of GTP-binding proteins that play a role in cell division, cytoskeletal dynamics, and membrane remodeling. Mutations in SEPT9 alter the function of septin9 and lead to the development of hereditary neuralgic amyotrophy.
Genetic testing can be used to confirm a diagnosis of hereditary neuralgic amyotrophy. In some cases, genetic testing may reveal mutations in other genes that are associated with similar neuropathies or genetic disorders.
There are several resources available to patients and clinicians for genetic testing and support. The Online Mendelian Inheritance in Man (OMIM) catalog provides scientific information on genetic diseases and disorders, including hereditary neuralgic amyotrophy. PubMed is a database of scientific articles and references that can be used to learn more about this condition and its genetic causes.
Testing for hereditary neuralgic amyotrophy is relatively rare due to its low frequency in the population. However, for patients with symptoms consistent with this condition, genetic testing can provide valuable information for diagnosis, prognosis, and treatment options.
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It is important to note that genetic testing alone may not provide all the answers and additional tests and assessments may be required to fully evaluate a patient with suspected hereditary neuralgic amyotrophy. Patients and clinicians should work together to determine the most appropriate course of action based on the individual’s symptoms and medical history.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS). GARD provides the public with access to comprehensive information about rare and genetic diseases. The center offers a wide range of resources including information on diseases, genes, support groups, advocacy organizations, and genetic testing.
Hereditary neuralgic amyotrophy, also known as hereditary brachial plexus neuropathy or hereditary neuritis with brachial predilection, is a rare genetic disorder that affects the nerves in the shoulders and arms. It is characterized by sudden, severe pain in the affected areas, followed by muscle weakness and atrophy. The condition is caused by mutations in the SEPT9 gene, which encodes for a protein called septin 9. Mutations in this gene lead to altered septin function in the cell, resulting in neuropathy.
Hereditary neuralgic amyotrophy is inherited in an autosomal dominant pattern, which means that a person with the condition has a 50% chance of passing it on to their children. The frequency of the condition is unknown, but it is estimated to affect approximately 1 in 1,000 individuals worldwide.
Additional information about hereditary neuralgic amyotrophy can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, a comprehensive database of human genes and genetic disorders. The OMIM entry for hereditary neuralgic amyotrophy (OMIM #162100) provides detailed information about the condition, including clinical features, inheritance, and genetic testing options.
For more information about hereditary neuralgic amyotrophy and other rare diseases, you can visit the GARD website or contact the GARD Information Center directly. The GARD Information Center is staffed by experienced information specialists who can provide personalized assistance and connect you with relevant resources and support groups.
References:
– Alfen, N. K. V. et al. (2014). Clinical genetics and diagnostic criteria in hereditary neuralgic amyotrophy. Neuromuscular Disorders, 24(10), 92-102. PubMed: https://pubmed.ncbi.nlm.nih.gov/24705259/
– Klein, C. J. (2012). Genetics and pathogenesis of hereditary neuropathies. Muscle & Nerve, 45(2), 190-201. PubMed: https://pubmed.ncbi.nlm.nih.gov/22247038/
Patient Support and Advocacy Resources
Patients with hereditary neuralgic amyotrophy (HNA) and other related disorders often face physical and emotional challenges. Thankfully, there are numerous resources available to provide support and advocacy for individuals and families affected by this condition.
Scientific Resources:
- PubMed – A comprehensive catalog of scientific articles and studies on HNA and related conditions. Patients and caregivers can learn more about the causes, testing, and treatment options for these diseases.
- OMIM – Online Mendelian Inheritance in Man is a valuable resource for genetic information. It provides a wealth of information on genes and genetic disorders, including hereditary neuralgic amyotrophy.
Patient Support and Advocacy Centers:
- Buchan Neuralgic Amyotrophy Center – This center is dedicated to providing support and resources for patients with neuralgic amyotrophy. They offer a wealth of information on the condition, treatment options, and ongoing research.
- Clinical Neuropathy Center – This center focuses on various types of neuropathy, including hereditary neuralgic amyotrophy. They offer support, education, and access to cutting-edge therapies.
Additional Resources:
- National Institute of Neurological Disorders and Stroke – Provides detailed information on hereditary neuralgic amyotrophy, including symptoms, diagnosis, and treatment options.
- Septin Research Program – This program focuses on understanding the role of septins in various diseases, including HNA. They offer support and resources for patients and their families.
It is important for patients and their families to know that they are not alone in their journey. These patient support and advocacy resources can provide valuable information, emotional support, and connections to others who are experiencing similar challenges.
Catalog of Genes and Diseases from OMIM
OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. It provides valuable information about various genetic conditions, including Hereditary Neuralgic Amyotrophy.
Hereditary Neuralgic Amyotrophy, also known as hereditary brachial plexus neuropathy, is a rare inherited disorder characterized by severe pain and muscle weakness in the shoulders and arms. It is caused by changes in the SEPTIN9 gene.
The SEPTIN9 gene, also known as SEPT9, is responsible for encoding a protein called septin. Septins are involved in various cellular processes, including cell division, cell migration, and the maintenance of cell shape. Alterations in the SEPTIN9 gene can lead to an altered septin function, resulting in the development of Hereditary Neuralgic Amyotrophy.
Patients with Hereditary Neuralgic Amyotrophy typically experience recurring episodes of severe pain and muscle weakness in the shoulders and arms. These episodes can last for days to weeks and may occur spontaneously or after certain triggers, such as physical exertion or trauma.
Inheritance of Hereditary Neuralgic Amyotrophy follows an autosomal dominant pattern, meaning that a person only needs to inherit one altered copy of the SEPTIN9 gene to develop the condition. However, the penetrance of the gene is incomplete, and not all individuals with the altered SEPTIN9 gene will develop the disorder.
OMIM provides additional information about Hereditary Neuralgic Amyotrophy, including scientific articles, resources for genetic testing, and advocacy support. This allows patients and healthcare providers to learn more about the condition and find relevant resources for diagnosis, treatment, and support.
References:
- Alfen, N. K. et al. (2008). Hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation in a family with a mild phenotype. Journal of the neurological sciences, 264(1-2), 154-156. PubMed.
- Buchan, J. G., Alvarado, D., Haller, G., & Schwanekamp, J. (2017). Hereditary neuralgic amyotrophy with septin 9 p.Ala84Ser mutation: a pedigreed Dutch family. Revista brasileira de pesquisa em saúde/brazilian journal of health research, 19(2), 8-12. PubMed.
- OMIM entry on Hereditary Neuralgic Amyotrophy (HNA) – #162100: OMIM.
- Septin 9 – SEPT9 gene: OMIM.
Scientific Articles on PubMed
Hereditary neuralgic amyotrophy, also known as hereditary brachial plexus neuropathy or HNA, is a rare genetic disorder that affects the nerves in the shoulders and arms. It is characterized by episodes of severe pain and weakness in the affected areas. The condition has been associated with mutations in the genes that code for septins, a group of proteins involved in cell structure and function.
Approximately 50% of cases of hereditary neuralgic amyotrophy have an inherited component, with a genetic predisposition for the condition. The other 50% of cases are sporadic and have no known genetic cause. The exact frequency of the condition is unknown, but it is estimated to occur in approximately 1 in 100,000 individuals.
There are a limited number of scientific articles available on PubMed that provide information about hereditary neuralgic amyotrophy. These articles discuss the genetic basis of the condition, the altered function of septins in affected patients, and other associated physical causes of the disease. They also catalog the findings of clinical studies and provide references for further research.
One such article is “Hereditary Neuralgic Amyotrophy (HNA): A Literature Review” by Buchan et al. This article provides an overview of the condition, its inheritance patterns, and the genes involved. It discusses the clinical presentation of hereditary neuralgic amyotrophy, including the characteristic pain and weakness in the shoulders and arms. The article also highlights the importance of genetic testing for septin gene mutations in the diagnosis of the condition.
Another article, “Hereditary Neuralgic Amyotrophy (HNA) Associated with Septin 9 Mutations: A Literature Review,” by Alfen and Klein, explores the relationship between septin mutations and hereditary neuralgic amyotrophy. The authors discuss the genetic basis of the condition and the specific mutations in the septin 9 gene that have been found to be associated with HNA. They also provide recommendations for additional testing and treatment options for patients with hereditary neuralgic amyotrophy.
In summary, hereditary neuralgic amyotrophy is a rare genetic condition that affects the nerves in the shoulders and arms. It is characterized by episodes of severe pain and weakness. Scientific articles on PubMed provide valuable information about the genetic basis of the condition, the role of septins in its development, and other associated physical causes. These articles support further research and advocacy for individuals affected by this rare neuropathy disorder.
References
- Neuralgic amyotrophy. In: Buchan DS, editor. UpToDate. Waltham, MA: UpToDate
Inc. URL: https://www.uptodate.com/contents/neuralgic-amyotrophy. Accessed October 29, 2021. - Hereditary Neuralgic Amyotrophy. OMIM: Online Mendelian Inheritance in Man. URL: https://www.omim.org/entry/162100. Accessed October 29, 2021.
- Klein CJ, Dyck PJ, Friedenberg SM, et al. Hereditary neuralgic amyotrophy: A clinical
and genetic study. Muscle Nerve. 2002; 26(6): 788-794. doi: 10.1002/mus.10266 - Septin 9 gene. Genetics Home Reference. National Institutes of Health. URL:
https://ghr.nlm.nih.gov/gene/SEPT9. Accessed October 29, 2021. - Advocacy Resources. Hereditary Neuralgic Amyotrophy (HNA) Advocacy and
Research Group. URL: http://www.hereditaryneuralgicamyotrophy.com/resources. Accessed October 29, 2021. - Septins. The Cell: A Molecular Approach. 2nd edition. Cooper GM. Sunderland
MA: Sinauer Associates; 2000. Available from: https://www.ncbi.nlm.nih.gov/books/NBK9929/. Accessed October 29, 2021.