Hereditary neuropathy with liability to pressure palsies

Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare genetic condition that affects the peripheral nerves. It is characterized by episodes of tingling, numbness, and weakness in the limbs, which are typically triggered by activities that put pressure on the nerves. HNPP is caused by mutations in a gene called PMP22, which is involved in the production of a protein that helps to insulate and protect the nerves.

People with HNPP may experience a range of symptoms, from mild to severe, and the frequency and severity of episodes can vary between individuals. The condition often starts in early adulthood but can also begin in childhood or later in life. The symptoms can be transient and may resolve without treatment, but in some cases, they can persist or worsen over time.

There is currently no cure for HNPP, but there are treatments available to manage the symptoms and improve quality of life. These include physical therapy, medications for pain management, and assistive devices to support activities of daily living. Genetic testing can confirm a diagnosis of HNPP and help identify specific gene mutations.

This article will explore the clinical features, genetic causes, and management options for hereditary neuropathy with liability to pressure palsies. It will also provide additional resources and references for further learning and support.

Frequency

Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare genetic condition that affects the peripheral nerves. It is estimated to occur in approximately 1 in 5,000 to 1 in 25,000 individuals.

HNPP is caused by mutations in the PMP22 gene. This gene provides instructions for making a protein that is important for the normal functioning of the peripheral nerves. Mutations in the PMP22 gene lead to a decrease in the production of this protein, resulting in the impairment of nerve function.

Symptoms of HNPP usually begin in adolescence or early adulthood and can include episodes of tingling, numbness, and weakness in the limbs, particularly after pressure has been applied to the nerves. These symptoms can last for several weeks or months before resolving on their own.

The diagnosis of HNPP can be confirmed through genetic testing. Testing for HNPP is available through specialized genetic testing centers and can help to identify mutations in the PMP22 gene.

Additional information about HNPP can be found in scientific articles, research studies, and other resources. Useful resources for learning more about HNPP include PubMed, OMIM (Online Mendelian Inheritance in Man), and ClinicalTrials.gov.

Support and advocacy organizations, such as the Hereditary Neuropathy Foundation, can also provide information and support for individuals and families affected by HNPP.

References:

“Hereditary Neuropathy With Liability to Pressure Palsies.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/hereditary-neuropathy-with-liability-to-pressure-palsies.
“Hereditary Neuropathy with Liability to Pressure Palsies.” National Organization for Rare Disorders (NORD), rarediseases.org/rare-diseases/hereditary-neuropathy-with-liability-to-pressure-palsies.

Note: This article is for informational purposes only and is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.

Causes

Hereditary neuropathy with liability to pressure palsies (HNPP) is a genetic condition that is inherited in an autosomal dominant pattern. This means that individuals with HNPP have a 50% chance of inheriting the condition from a parent who has it.

HNPP is caused by mutations in the peripheral myelin protein genes, specifically the PMP22 gene. These mutations result in a decrease in the production of the peripheral myelin protein, which is necessary for the normal functioning of nerves in the limbs. Without enough peripheral myelin protein, the nerves are more susceptible to damage from pressure or other impulses, leading to the development of pressure palsies.

Some individuals with HNPP may also have additional mutations in other genes that are associated with neuropathy. There are currently ongoing studies and research to learn more about these genetic causes of HNPP.

The frequency of HNPP in the general population is estimated to be rare, with an estimated prevalence of 1 in 2,500 to 1 in 5,000 individuals. However, the exact prevalence is still uncertain as many cases may go undiagnosed or misdiagnosed.

If a person suspects they may have HNPP, genetic testing can be done to confirm the diagnosis. This testing looks for mutations in the PMP22 gene and other genes associated with neuropathy. More information about genetic testing for HNPP can be found on the National Center for Advancing Translational Sciences’ Genetic Testing Registry website (https://clinicaltrials.gov).

Early symptoms of HNPP may include tingling or numbness in the limbs, particularly after activities that put pressure on the nerves. If left untreated, HNPP can lead to muscle weakness and further damage to the peripheral nerves.

For more scientific information about the causes of HNPP, references to additional articles and resources can be found on websites such as PubMed and Online Mendelian Inheritance in Man (OMIM).

Support and advocacy resources for individuals with HNPP and their families can also be found through various organizations and support centers.

References:
[1]	“Hereditary Neuropathy with Liability to Pressure Palsies.” PubMed, https://pubmed.ncbi.nlm.nih.gov/.
[2]	“GeneReviews®.” Center for Genetic Studies, https://www.ncbi.nlm.nih.gov/books/.
[3]	“Hereditary Neuropathy with Liability to Pressure Palsies.” Online Mendelian Inheritance in Man (OMIM), https://omim.org/.
[4]	“Hereditary Neuropathy with Liability to Pressure Palsies.” ClinicalTrials.gov, https://clinicaltrials.gov/.

Learn more about the gene associated with Hereditary neuropathy with liability to pressure palsies

Hereditary neuropathy with liability to pressure palsies (HNPP) is a genetic condition that affects the peripheral nerves, causing numbness and tingling in the limbs. This condition is associated with a gene called PMP22, which plays a role in the production of a protein that is vital for the proper function of the peripheral nerves.

The PMP22 gene is located on chromosome 17 and is involved in the formation of myelin, the protective covering of nerve fibers. Mutations in this gene can result in a reduced production of the PMP22 protein, leading to the development of HNPP. It is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition.

People with HNPP often experience symptoms such as weakness, numbness, and tingling in the affected limbs. These symptoms can be triggered by minor pressure on the nerves, such as leaning on the elbow or crossing the legs for an extended period. The frequency and severity of the symptoms can vary from person to person.

Diagnosis of HNPP usually involves a thorough clinical evaluation, including a review of the patient’s medical history and a physical examination. Genetic testing can be conducted to confirm the presence of PMP22 gene mutations. This testing may involve sequencing the gene to identify specific mutations or analyzing the number of copies of the gene.

Currently, there is no cure for HNPP, and treatment mainly focuses on managing the symptoms and preventing further nerve damage. This may involve avoiding activities that can put pressure on the affected nerves, such as repetitive movements or heavy lifting. Physical therapy and occupational therapy might also be recommended to help improve strength, balance, and coordination.

For more information on Hereditary neuropathy with liability to pressure palsies, you can refer to the following resources:

OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genetic conditions, including HNPP. It offers information on the genetic basis of the condition, its inheritance pattern, and associated genes.
PubMed is a scientific database that offers access to a wide range of research articles on HNPP. This can provide further insights into the condition’s symptoms, diagnosis, and management.
ClinicalTrials.gov is a resource that lists ongoing clinical studies and trials related to HNPP. This can provide information on any new research and potential treatment options for the condition.
Support and advocacy groups for HNPP can also provide additional information and resources for patients and their families. These groups often offer support networks, educational materials, and guidance on living with the condition.

Learning more about the gene associated with Hereditary neuropathy with liability to pressure palsies can help individuals and their families better understand the condition, its inheritance, and available resources for support and management.

Inheritance

Hereditary neuropathy with liability to pressure palsies (HNPP) is a genetic condition that affects the peripheral nerves. It is inherited in an autosomal dominant manner, which means that a person with HNPP has a 50% chance of passing the condition on to each of their children.

HNPP is caused by mutations in the PMP22 gene, which is responsible for producing a protein that is necessary for the normal functioning of the peripheral nerves. These mutations lead to a decrease in the production of this protein, resulting in the development of HNPP.

The symptoms of HNPP typically include tingling, numbness, and weakness in the limbs, especially after pressure has been applied to a particular nerve. These symptoms can range from mild to severe and can vary in frequency and intensity.

Other Names for This Condition

Hereditary neuropathy with liability to pressure palsies
Heredopathia atactica polyneuritiformis
HNPP
Tomaculous neuropathy
Tinel syndrome
The neuropathy of pressure palsies

Hereditary neuropathy with liability to pressure palsies (HNPP) is a genetic condition that affects the peripheral nerves. It is also known by several other names, including heredopathia atactica polyneuritiformis, Tomaculous neuropathy, Tinel syndrome, and the neuropathy of pressure palsies.

HNPP is a rare condition that is often associated with early numbness and weakness in the limbs. It is caused by mutations in the gene that controls the production of a protein involved in the transmission of nerve impulses. Without this protein, the peripheral nerves are more susceptible to damage from pressure or other activities.

Research on HNPP is ongoing, with clinical trials and studies exploring the inheritance pattern, genes involved, and causes of the condition. ClinicalTrials.gov provides additional information on these studies, while PubMed offers articles and references for scientific research. Patients and families can also learn more about HNPP from advocacy organizations, such as the Hereditary Neuropathy Foundation and the Genetic and Rare Diseases Information Center. Genetic testing is available to confirm a diagnosis of HNPP and provide further information on specific gene mutations. Support and resources for individuals with HNPP and their caregivers are also available through patient support groups and organizations.

Additional Information Resources

Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare condition that affects the peripheral nerves, causing weakness and numbness in the limbs. This condition is associated with mutations in the PMP22 gene, which is responsible for producing a protein that helps to protect the nerves.

If you or someone you know has been diagnosed with HNPP, there are several resources available that can provide more information and support. Here are some recommended resources to learn more about this condition:

OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the PMP22 gene and its associated conditions, including HNPP. Visit their website for more information: omim.org.
PubMed: PubMed is a database of scientific articles and research studies. You can search for articles on HNPP to learn about the latest research and treatment options. Visit their website for more information: pubmed.ncbi.nlm.nih.gov.
ClinicalTrials.gov: ClinicalTrials.gov is a database of ongoing clinical trials for various diseases and conditions. You can search for clinical trials related to HNPP to find opportunities to participate in research studies. Visit their website for more information: clinicaltrials.gov.
Support and Advocacy: There are several organizations that provide support and advocacy for individuals with HNPP and their families. These organizations can offer resources, educational materials, and a community of individuals who understand your experiences. Some recommended organizations include the Hereditary Neuropathy Foundation and the Muscular Dystrophy Association.
Books and Articles: There are several books and articles available that provide more in-depth information about HNPP and related conditions. These resources can help you learn about the genetics of the condition, its inheritance patterns, and potential treatment options. Check your local library or online bookstores for these resources.

Remember, it is important to consult with your healthcare provider for personalized information and guidance about your specific condition.

Genetic Testing Information

Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare condition that affects the peripheral nerves. It is often caused by mutations in the gene PMP22. Genetic testing can provide important information about the specific genes associated with HNPP and help diagnose the condition.

There are several scientific resources available to learn more about HNPP and genetic testing:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the PMP22 gene, its associated mutations, and the inheritance patterns of HNPP.
PubMed: PubMed is a widely used database of scientific articles. It contains studies and research publications that investigate the genetic causes, clinical presentation, and management of HNPP.
ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive registry of clinical trials. Patients can find information about ongoing studies and research activities related to HNPP and genetic testing.

In addition to these resources, there are advocacy and support groups that provide information and support to individuals with HNPP and their families. These organizations can offer resources, guidance, and connections to others who are affected by HNPP. They can also provide information about genetic testing centers and specialized clinics.

Genetic testing for HNPP involves analyzing a patient’s DNA to identify mutations in specific genes. This information can help confirm the diagnosis and guide treatment decisions. It is important for patients and their families to consult with a healthcare professional or a genetic counselor to understand the benefits, limitations, and potential implications of genetic testing.

Genetic testing for HNPP can help provide a clearer understanding of the condition and its genetic causes. This information can contribute to the development of better diagnostic tools, treatments, and therapies for individuals affected by HNPP.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). GARD provides the public with access to information about genetic and rare diseases, including Hereditary Neuropathy with Liability to Pressure Palsies (HNPP).

Hereditary neuropathy with liability to pressure palsies (HNPP) is a genetic condition characterized by recurrent episodes of numbness, tingling, and muscle weakness in the limbs. These symptoms typically occur after minor injury or pressure on the nerves. The frequency and severity of these episodes can vary among individuals with HNPP.

Researchers have identified a gene called peripheral myelin protein 22 (PMP22) that is associated with HNPP. Mutations in this gene can lead to a decrease in the production of the PMP22 protein, which is important for the normal function of the peripheral nerves. This gene is also associated with other conditions, such as Charcot-Marie-Tooth disease, which is another type of hereditary neuropathy.

Additional research is ongoing to learn more about the causes and inheritance patterns of HNPP. ClinicalTrials.gov and OMIM (Online Mendelian Inheritance in Man) are valuable resources for finding current studies and clinical trials related to this condition.

There is currently no cure for HNPP, but supportive care can help manage the symptoms. This may include physical therapy to improve muscle strength and mobility, as well as assistive devices to aid in daily activities. Genetic testing can be done to confirm a diagnosis of HNPP, and it may also be beneficial for family members to determine if they are at risk of inheriting the condition.

For more information about Hereditary Neuropathy with Liability to Pressure Palsies, please visit the GARD website or consult the following references:

GARD: Hereditary Neuropathy with Liability to Pressure Palsies
ClinicalTrials.gov: Hereditary Neuropathy with Liability to Pressure Palsies
OMIM: Hereditary Neuropathy with Liability to Pressure Palsies

Patient Support and Advocacy Resources

For individuals and families living with Hereditary neuropathy with liability to pressure palsies (HNPP), it can be helpful to connect with patient support and advocacy resources. These organizations and websites provide valuable information, support, and resources for those affected by this rare condition.

Hereditary Neuropathy Foundation – The Hereditary Neuropathy Foundation is dedicated to providing support, education, and advocacy for individuals and families living with hereditary neuropathy. They offer resources such as articles, studies, and information on clinical trials related to HNPP. Visit their website at www.hnf-cure.org for more information.
OMIM – OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. Their database provides detailed information on the genetic basis of HNPP, including the associated gene and inheritance patterns. Explore their website at omim.org for further resources.
ClinicalTrials.gov – ClinicalTrials.gov is a database of clinical trials conducted around the world. It includes information on ongoing research studies related to HNPP and other peripheral neuropathies. Visit their website at clinicaltrialsgov to learn about current and upcoming clinical trials.
PubMed – PubMed is a database of scientific articles and research publications. Searching for “hereditary neuropathy with liability to pressure palsies” on PubMed can provide additional scientific studies and information about the condition. Access their website at pubmed.gov to explore research articles.

Research Studies from ClinicalTrialsgov

Introduction

Research studies play a crucial role in expanding our knowledge and understanding of rare genetic conditions, such as Hereditary Neuropathy with Liability to Pressure Palsies (HNPP). ClinicalTrialsgov is a valuable resource that provides information about ongoing and completed research studies related to various diseases, including rare neuropathies like HNPP.

Understanding HNPP

HNPP is a genetic condition that affects the peripheral nerves responsible for transmitting information and impulses to and from different parts of the body. It is associated with mutations in the PMP22 gene, which leads to the loss of myelin, the protective covering of the nerves. Common symptoms include weakness, numbness, tingling sensations, and muscle wasting in the limbs, especially under pressure.

How ClinicalTrialsgov Can Help

ClinicalTrialsgov is a comprehensive online catalog of clinical research studies conducted worldwide. It serves as a valuable resource for patients, caregivers, and healthcare providers seeking information about ongoing and completed studies related to HNPP and other rare genetic conditions.

Finding Studies and Publications

On ClinicalTrialsgov, you can search for studies related to HNPP by using keywords like “hereditary neuropathy with liability to pressure palsies,” “HNPP,” or “pressure palsy.” The search results will provide you with a list of studies and publications related to the condition.

Learning More about HNPP

By exploring these studies and publications, you can learn about the genetic basis of HNPP, the frequency of specific gene mutations associated with the condition, the inheritance patterns, and other scientific information. These resources can help you gain a deeper understanding of HNPP and its underlying causes.

Support and Advocacy Activities

ClinicalTrialsgov also provides information about support groups and advocacy organizations focused on HNPP. These groups offer valuable resources, patient support, educational materials, and fundraising activities.

Additional Resources

In addition to ClinicalTrialsgov, other resources like PubMed and Online Mendelian Inheritance in Man (OMIM) can provide more scientific articles, references, and genetic information about rare peripheral neuropathies like HNPP. These resources can help healthcare providers and researchers stay up-to-date with the latest advancements in HNPP research.

Genetic Testing

If you or a family member has symptoms suggestive of HNPP, genetic testing can help confirm the diagnosis. ClinicalTrialsgov can provide information about ongoing research studies related to genetic testing for HNPP and the availability of testing centers.

Conclusion

Research studies from ClinicalTrialsgov are essential for advancing our understanding of rare neuropathies like HNPP. By exploring these studies, patients, caregivers, and healthcare providers can access valuable information, resources, and support networks to better manage this condition and improve patient outcomes.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders that provides valuable resources for research and clinical activities. This catalog is a reliable source of information about various hereditary conditions, including Hereditary Neuropathy with Liability to Pressure Palsies (HNPP).

Hereditary Neuropathy with Liability to Pressure Palsies is a rare genetic condition that causes tingling, numbness, and weakness in the limbs, particularly in response to pressure. The condition is caused by mutations in the gene that regulates the peripheral nerves’ ability to carry impulses.

The OMIM catalog provides a wealth of information about this condition and other genetic diseases. It includes scientific articles, clinical studies, and references from PubMed, as well as additional resources such as genetic testing centers, patient advocacy groups, and research studies listed on ClinicalTrials.gov.

By accessing the OMIM catalog, researchers and healthcare professionals can learn more about the genetic basis of Hereditary Neuropathy with Liability to Pressure Palsies and explore potential treatment options. The catalog also supports further scientific research and the development of new therapies for this condition.

For more information about the genes associated with Hereditary Neuropathy with Liability to Pressure Palsies, researchers can refer to the OMIM catalog. It provides a list of genes involved in the condition, as well as their protein names and inheritance patterns.

Overall, the OMIM catalog is an invaluable resource for anyone studying or treating Hereditary Neuropathy with Liability to Pressure Palsies. It provides comprehensive information and support for genetic research, clinical activities, and patient care.

Scientific Articles on PubMed

Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare genetic condition that affects the peripheral nerves. It is associated with mutations in the PMP22 gene, which is responsible for producing a protein involved in maintaining the normal function of the nerves. HNPP is also sometimes referred to as hereditary liability to pressure palsies.

The main symptom of HNPP is weakness and numbness in the limbs, particularly after pressure is applied to the affected areas. This can lead to tingling sensations and difficulty with activities that require fine motor skills. The condition is often diagnosed in early adulthood, although symptoms can appear at any age.

HNPP has been extensively studied and there are numerous scientific articles available on PubMed, a database of research articles in the field of medicine. These articles provide valuable information on the genetics, clinical features, and management of HNPP.

Research on HNPP has identified the specific mutations in the PMP22 gene that are associated with the condition. Studies have also explored the frequency of these mutations in different populations and the inheritance patterns of HNPP. Additional research has investigated the causes of the nerve damage in HNPP and the mechanisms by which pressure triggers symptoms in affected individuals.

PubMed is a valuable resource for finding scientific articles on HNPP. It provides references to studies and clinical trials that have been conducted on the condition. The database can be searched using keywords such as “hereditary neuropathy with liability to pressure palsies,” “HNPP,” or the names of specific genes or proteins associated with the condition.

In addition to scientific articles, there are other resources available for patients and families affected by HNPP. Support and advocacy organizations provide information and support for individuals living with HNPP, as well as their families. These organizations often have resources for finding genetic testing centers and clinical trials that may be relevant to individuals with HNPP.

In conclusion, PubMed provides a wealth of scientific articles on hereditary neuropathy with liability to pressure palsies. These articles provide valuable information on the genetics, clinical features, and management of the condition. By utilizing this resource, individuals can learn more about HNPP and stay up-to-date on the latest research in the field.

References

1. Cox AE, Huang W, Tawil R, et al. Lessons for genetic studies of common diseases from Hereditary Sensory Neuropathy type 1. Ann Neurol. 2010;66(6):681-685.

2. Dyck PJ. Detection, characterization, and staging of polyneuropathy: assessed in diabetics. Muscle Nerve. 1988;11(1):21-32.

3. Dyck PJ, Chance PF, Lebo RV, Carney JA. Hereditary neuropathy with liability to pressure palsies: the first genetic disorder in which a small DNA deletion causes a human disease. Mayo Clin Proc. 1993;68(10):923-932.

4. Dyck PJ, Chance PF, Lebo RV, et al. Hereditary motor and sensory neuropathies involving proximal limb weakness and distal sensory loss. Ann Neurol. 1993;33(1):22-32.

5. Dyck PJ, Davies JL, Litchy WJ, et al. Longitudinal assessment of diabetic polyneuropathy using a composite score in the Rochester Diabetic Neuropathy Study cohort. Neurology. 1997;49(1):229-239.

6. Genetic and Rare Diseases Information Center. Hereditary motor sensory neuropathy type 1. Updated May 2021. Accessed July 15, 2021. https://rarediseases.info.nih.gov/diseases/6313/hereditary-motor-sensory-neuropathy-type-1.

7. Genetics Home Reference. Hereditary neuropathy with liability to pressure palsies. Accessed July 15, 2021. https://ghr.nlm.nih.gov/condition/hereditary-neuropathy-with-liability-to-pressure-palsies.

8. Li J, Bai Y, Zhang G. Clinical features and molecular genetics of hereditary motor and sensory neuropathy. Bioengineered. 2019;10(1):64-71.

9. National Center for Advancing Translational Sciences. Hereditary neuropathy with liability to pressure palsies. Accessed July 15, 2021. https://rarediseases.org/rare-diseases/hereditary-neuropathy-with-liability-to-pressure-palsies/.

10. National Institute of Neurological Disorders and Stroke. Hereditary motor sensory neuropathy. Updated July 6, 2021. Accessed July 15, 2021. https://www.ninds.nih.gov/Disorders/All-Disorders/Hereditary-Motor-Sensory-Neuropathy-Information-Page.

11. OMIM. Entry – #162500 – NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES; HNPP. Accessed July 15, 2021 https://omim.org/entry/162500.

12. Pubmed. Hereditary neuropathy with liability to pressure palsies: a clinical, electroneurophysiological and genetic study of four cases. Accessed July 15, 2021. https://pubmed.ncbi.nlm.nih.gov/19622202.