Spinal and Bulbar Muscular Atrophy: Causes, Symptoms, and Treatment

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s disease, is a rare genetic condition characterized by muscle weakness and atrophy. It is caused by a mutation in the androgen receptor gene located on the X chromosome.

The disease primarily affects males, as they have only one X chromosome. The mutation in the androgen receptor gene leads to the accumulation of abnormal proteins in the nerve cells that control muscle movement. This accumulation disrupts the normal functioning of these cells, leading to the degeneration and loss of muscle cells over time.

SBMA is a progressive condition, meaning that symptoms worsen over time. Early signs of the disease typically appear in adulthood and may include muscle cramps, weakness, and difficulty swallowing. As the disease progresses, individuals may experience respiratory difficulties, muscle wasting, and speech problems.

Diagnosis of SBMA is typically made through genetic testing, which can identify the presence of the mutation in the androgen receptor gene. Additional testing, such as electromyography and muscle biopsy, may be performed to confirm the diagnosis and evaluate the severity of muscle damage.

Currently, there is no cure for SBMA. Treatment focuses on managing symptoms and improving quality of life. Physical therapy, occupational therapy, and speech therapy may be recommended to help individuals maintain muscle strength, mobility, and communication abilities. Support groups and advocacy organizations provide resources and information for individuals and families affected by SBMA.

References:
In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

Suzuki, K., Banno, H., & Finsterer, J. (2019). Kennedy Disease. StatPearls. PMID: 28613721

“Spinal and bulbar muscular atrophy”. Genetics Home Reference. U.S. National Library of Medicine. 2019.

“Spinal and bulbar muscular atrophy”. OMIM. Johns Hopkins University. 2015.

“Spinal and bulbar muscular atrophy”. Orphanet. June 2012.

“Spinal and bulbar muscular atrophy”. National Organization for Rare Disorders (NORD). 2006.

“Spinal Bulbar Muscular Atrophy”. Kennedy’s Disease Association – Spinal Bulbar Muscular Atrophy Info & Research. Kennedy’s Disease Association.

“Spinal and bulbar muscular atrophy”. Catalog of Genes and Diseases. Paris-Sud University. 1998.

Frequency

The condition Spinal and Bulbar Muscular Atrophy (SBMA), also known as Kennedy’s disease, is a rare X-linked genetic disorder. It is estimated to affect approximately 1 in 30,000 to 50,000 males worldwide.

SBMA is associated with mutations in the androgen receptor (AR) gene, leading to a toxic gain of function of the AR protein. This causes degeneration of motor neurons in the spinal cord and brainstem, resulting in muscle weakness and atrophy.

Although primarily affecting males, there have been a few reported cases of female carriers who exhibit milder symptoms. It is believed that the severity of the disease in females may be influenced by other genetic factors.

The frequency of SBMA may vary among different populations. For more information on the frequency of SBMA in specific populations, the Online Mendelian Inheritance in Man (OMIM) catalog and other genetic databases can be consulted.

Patient support resources, such as the Kennedy’s Disease Association and advocacy groups, provide additional information on SBMA, including clinical trials and research studies. Scientific articles and references on SBMA can also be found in PubMed and other scientific databases.

Genetic testing is available to confirm a diagnosis of SBMA and to identify the specific mutation in the AR gene. This information can help guide treatment and management options for patients with the condition.

Research studies on SBMA are ongoing to further understand the genetic causes, inheritance patterns, and potential treatments for the disease. ClinicalTrials.gov is a valuable resource for information about ongoing clinical trials related to SBMA.

Causes

Spinal and bulbar muscular atrophy (SBMA) is caused by a mutation in the androgen receptor gene (AR) located on the X chromosome. This mutation leads to the expansion of a CAG repeat in the AR gene, resulting in the production of a toxic form of the androgen receptor protein. This toxic protein interferes with the normal function of cells, particularly those in the muscles and nerves.

SBMA is inherited in an X-linked recessive pattern, which means that the condition primarily affects males. Females can be carriers of the mutation, but typically do not show symptoms of the disease. The severity of symptoms and age of onset can vary among affected individuals.

The expansion of the CAG repeat in the AR gene is responsible for the characteristic features of SBMA, including muscle weakness and wasting, especially in the muscles that control movement and breathing. The specific effects of the mutation are not fully understood, but it is thought that the toxic form of the androgen receptor protein disrupts cellular processes involved in muscle and motor neuron function.

Additional genetic and environmental factors may also play a role in the development and progression of SBMA, but further research is needed to understand these factors fully.

To learn more about the causes of SBMA, you can visit the following resources:

Online Mendelian Inheritance in Man (OMIM) – a comprehensive database of genetic conditions. Search for “spinal and bulbar muscular atrophy” to find more information about the condition and related genes.
GeneReviews – a resource that provides up-to-date information about genetic diseases. Visit their website and search for “spinal and bulbar muscular atrophy” to access an overview of the condition, associated genes, and additional resources.
ClinicalTrials.gov – a registry of clinical studies. Search for “spinal and bulbar muscular atrophy” to find ongoing research studies and clinical trials related to the condition.
PubMed – a database of scientific articles. Search for “spinal and bulbar muscular atrophy” to find research articles and studies about the condition and its genetic causes.
Rare Diseases Advocacy, Research, and Support Center (RDAC) – an organization that provides support and resources for individuals and families affected by rare diseases. Visit their website to find information about SBMA and connect with other individuals and families affected by the condition.

Learn more about the gene associated with Spinal and bulbar muscular atrophy

Spinal and bulbar muscular atrophy (SBMA) is an X-linked genetic disorder caused by a mutation in the androgen receptor (AR) gene located on the X chromosome. This condition primarily affects muscles that control movement.

The AR gene provides instructions for making a protein called the androgen receptor. This receptor plays a crucial role in the body’s response to androgen hormones, such as testosterone. Mutations in the AR gene result in a form of the androgen receptor that is more susceptible to damage and aggregation.

SBMA, also known as Kennedy’s disease, is a rare condition that mainly affects men. Symptoms typically appear in adulthood and gradually worsen over time. The disease is characterized by muscle weakness and wasting, particularly in the limbs and bulbar region (face, mouth, and throat).

To learn more about the gene associated with SBMA, you can visit the following resources:

Research studies have been conducted to further understand the pathogenesis of SBMA and potential therapeutic approaches. Additional scientific research and clinical trials can provide information on the latest advancements in this field.

Support and advocacy organizations such as the Kennedy’s Disease Association offer resources and support for individuals and families affected by SBMA. They provide information, articles, and access to support networks.

For genetic testing and counseling, you can reach out to specialized genetic centers that offer services related to rare genetic diseases like SBMA. Finsterer et al. (2014) have published a review article that provides more information about the genetics of SBMA and related conditions.

In conclusion, the gene associated with SBMA is the androgen receptor gene (AR). Mutations in this gene lead to the development of SBMA. To learn more about this condition and the gene involved, you can explore the resources mentioned above.

Inheritance

The inheritance pattern of spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s disease, is X-linked recessive. This means that the mutated gene responsible for the condition is located on the X chromosome. Since males have only one X chromosome, a mutation in this gene will result in the development of the disease. On the other hand, females have two X chromosomes, and they need to inherit two copies of the mutated gene to develop SBMA.

The mutated gene in SBMA is the androgen receptor gene (AR). Normally, the androgen receptor protein helps cells respond to male sex hormones called androgens. In patients with SBMA, this gene contains an abnormal expansion of the CAG repeat, which leads to the production of a mutant androgen receptor protein. This mutant protein interferes with the normal cellular functions in nerve cells and muscle cells, leading to the symptoms of the disease.

The CAG repeat expansion in the AR gene is a dynamic mutation, meaning that it can change in size from generation to generation. This explains why the severity and age of onset of SBMA can vary among affected individuals, even within the same family.

To confirm the diagnosis of SBMA, genetic testing can be performed. This testing involves analyzing the AR gene for the presence of the CAG repeat expansion. Genetic testing can also be used to determine carrier status in females who may be at risk of having children with SBMA.

Currently, there is no cure for SBMA, but there are treatment approaches that can help manage the symptoms. Research and clinical trials are ongoing to further our understanding of the disease and develop potential therapies.

Additional information about inheritance and genetics of SBMA can be found on websites such as OMIM, PubMed, and clinicaltrials.gov. These resources provide access to scientific articles, references, and support groups that can help patients, caregivers, and healthcare providers learn more about SBMA and related diseases.

Other Names for This Condition

This condition is also known by several other names, including:

Spinal and Bulbar Muscular Atrophy
Chromosome X-Linked Spinal and Bulbar Muscular Atrophy
Spinal and Bulbar Muscular Atrophy, Kennedy Type
Spinobulbar Muscular Atrophy
SBMA
Bulbospinal Muscular Atrophy
Bulbospinal Neuromuscular Atrophy
Bulbospinal Atrophy
Kennedy Disease
X-Linked Spinal and Bulbar Muscular Atrophy

These names reflect the various aspects of this genetic disorder, which affects the muscles, particularly those involved in movement and voice production. It is characterized by a mutation in the androgen receptor gene on the X chromosome. More information about this condition and its causes can be found on the Online Mendelian Inheritance in Man (OMIM) database.

Studies have shown that this condition is rare, with a frequency of approximately 1 in 30,000 to 1 in 50,000 individuals. Additional names and articles related to this condition can be found on PubMed, a scientific research database.

For patients and families affected by this condition, there are various resources available for support and to learn more about the condition. These include advocacy organizations, genetic counseling centers, and clinical trials. The ClinicalTrials.gov database provides information about ongoing research studies and clinical trials related to this condition.

Additional Information Resources

For more information about Spinal and Bulbar Muscular Atrophy (SBMA) and related diseases, the following resources may be helpful:

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes associated with genetic diseases. You can search for the gene associated with SBMA (AR gene) and learn more about its inheritance pattern and causes.
PubMed is a database of scientific articles. By searching for keywords like “Spinal and Bulbar Muscular Atrophy” or “Kennedy’s disease,” you can find research studies and clinical trials related to SBMA.
ClinicalTrials.gov is a database of clinical trials worldwide. You can search for ongoing or completed trials related to SBMA that are recruiting patients.
Bulbar Muscular Atrophy Advocacy and Support Center provides support, resources, and information for patients and families affected by SBMA. They also advocate for increased awareness and research funding for the condition.
Banno et al., 2015 – A scientific article by Banno et al. that discusses the mutation of the AR gene in SBMA and its effects at the cellular level.
Suzuki et al., 2003 – Another scientific article by Suzuki et al. that provides more information about the genetic and clinical aspects of SBMA.

Genetic Testing Information

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s disease, is a rare genetic condition characterized by the degeneration of muscles in the spinal cord and bulbar region. It is caused by a mutation in the androgen receptor gene located on the X chromosome.

Genetic testing is available for diagnosing SBMA and confirming the presence of the mutation in affected individuals. This testing involves analyzing a blood or saliva sample to identify the specific mutation in the androgen receptor gene.

Testing for SBMA can be done through various diagnostic centers, laboratories, and clinics. It is important to consult with a genetic counselor or healthcare professional to understand the testing process and implications of the results.

Furthermore, genetic testing can also help determine the inheritance pattern of SBMA in a family. As an X-linked recessive disorder, the condition primarily affects males, but females can be carriers of the mutation.

If a genetic mutation is detected in an individual, genetic testing can also be done for their family members to determine if they are at risk of inheriting the condition.

In addition to genetic testing, there are other resources available for individuals and families affected by SBMA. These include advocacy organizations, support groups, and scientific research studies.

The following resources can provide more information on genetic testing and SBMA:

OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of human genes and genetic conditions, including SBMA.
PubMed: a database of scientific articles and studies on SBMA and related topics.
ClinicalTrials.gov: a database of ongoing clinical trials and research studies on SBMA.
Kennedy’s Disease Association: an advocacy and support center for individuals with SBMA and their families.

Genetic testing plays a crucial role in the diagnosis and management of SBMA. It provides valuable information about the specific mutation causing the condition, the inheritance pattern, and the risk of inheriting the condition for family members. By learning more about the genetic basis of SBMA, researchers can continue to explore potential treatment options and improve the quality of life for affected individuals.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by rare genetic diseases. It provides information about various genetic and rare diseases, including spinal and bulbar muscular atrophy (SBMA).

Spinal and bulbar muscular atrophy, also known as Kennedy’s disease, is a rare genetic condition that primarily affects the muscles involved in movement and swallowing. SBMA is inherited in an X-linked recessive pattern, which means that the condition is caused by mutations in the AR gene located on the X chromosome.

The Genetic and Rare Diseases Information Center offers comprehensive information about SBMA, including its causes, symptoms, frequency, inheritance pattern, and related genes. It provides additional resources, such as advocacy organizations, research articles, and clinical trials related to the condition.

Patients and their families can learn more about SBMA through the center’s online catalog of rare diseases, which provides articles and references from scientific journals and other reputable sources. The center also offers information on testing and diagnosis for SBMA, including genetic testing to identify the specific mutation causing the condition.

By providing up-to-date and reliable information, the Genetic and Rare Diseases Information Center aims to support individuals affected by SBMA and their healthcare providers. It serves as a hub for the latest research and resources related to this rare genetic disease.

Patient Support and Advocacy Resources

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s disease, is a rare genetic condition caused by a mutation on the X-chromosome. This condition is characterized by progressive muscle weakness and atrophy, particularly in the spinal and bulbar muscles.

For patients and their families dealing with SBMA, there are several patient support and advocacy resources available to provide information, support, and resources:

The Kennedy’s Disease Association (KDA): The KDA is a non-profit organization dedicated to supporting individuals and families affected by SBMA. They provide resources, education, and support through their website, support groups, and community events.
OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic diseases. The OMIM database provides detailed information about the genetic causes and associated symptoms of SBMA.
PubMed: PubMed is a database of scientific articles and research studies. It contains a wealth of information about SBMA and related topics. Patients and their families can search PubMed to learn more about the latest research and developments in the field of SBMA.
ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials for a wide range of diseases, including SBMA. Patients and their families can search for ongoing or upcoming clinical trials related to SBMA to find opportunities for participation and access to new treatments.
Genetic Testing: Genetic testing can confirm a diagnosis of SBMA and provide more information about the specific mutation and inheritance pattern. Patients and their families can consult with a genetic counselor or healthcare provider to learn more about the available testing options.
Other Resources: There are various other resources available online and in-person that provide information, support, and advocacy for SBMA. Some of these include online forums and support groups, disease-specific organizations, and healthcare centers specializing in neuromuscular disorders.

It’s important for patients and their families to access these resources to stay informed about SBMA, connect with others facing similar challenges, and access support and advocacy services. By working together, patients, healthcare providers, and advocacy organizations can improve the quality of life for individuals living with SBMA.

Research Studies from ClinicalTrialsgov

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s disease, is a rare genetic condition associated with the X-linked inheritance pattern. It is caused by a mutation in the androgen receptor gene, leading to the degeneration of muscles in the spinal and bulbar regions.

ClinicalTrialsgov is a valuable resource for research studies related to spinal and bulbar muscular atrophy. These studies aim to improve our understanding of the disease, develop new treatments, and provide support for affected patients.

Research Studies:

Study 1: “Genetic Testing for SBMA”

This study investigates the genetic mutation associated with SBMA and aims to develop better testing methods to identify affected individuals.

Study 2: “Effects of Androgens in SBMA”

This study examines the role of androgens in the development and progression of SBMA and explores potential therapeutic approaches targeting these hormones.

Study 3: “Cell-Based Therapies for SBMA”

This study explores the use of cell-based therapies, such as stem cells, to restore muscle function in individuals with SBMA.

Study 4: “Bulbospinal Manifestations in SBMA”

This study focuses on the bulbospinal manifestations of SBMA, investigating the neurological symptoms and their impact on patient outcomes.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders. It provides valuable information about various diseases, including spinal and bulbar muscular atrophy (SBMA).

SBMA, also known as Kennedy’s disease, is a rare X-linked genetic condition. It is caused by a mutation in the androgen receptor gene on the X chromosome. This mutation leads to the accumulation of toxic proteins in nerve cells and muscles.

Each patient with SBMA inherits a copy of the mutated gene, which affects the function of androgen receptors. Androgens are the hormones responsible for male sexual development and other functions in the body.

The symptoms of SBMA usually appear in adulthood and include muscle weakness, fasciculations (muscle twitching), and difficulty swallowing (bulbar symptoms). The severity of symptoms can vary from patient to patient.

OMIM provides a wealth of resources related to SBMA. It offers a list of other rare genetic diseases, scientific articles, and references for further research. OMIM also supports patient advocacy and provides information about ongoing clinical trials for SBMA.

To learn more about SBMA and other genetic diseases, OMIM is a valuable resource. It provides frequency data, clinical studies, and testing information for each gene and disease. Additional information can be found through PubMed, clinicaltrialsgov, and other research centers.

Here are some of the genes and diseases related to SBMA:

Spinal and bulbar muscular atrophy (OMIM 313200)
Androgen receptor gene (OMIM 313700)

It is important for healthcare professionals and researchers to stay updated with the latest information about SBMA. OMIM serves as a reliable and comprehensive catalog for genes and diseases, providing the necessary support for better understanding and management of this condition.

Scientific Articles on PubMed

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s disease, is a rare genetic condition characterized by weakness and wasting of the muscles. It is an X-linked recessive disorder caused by a mutation in the androgen receptor gene on the X chromosome.

Research and genetic studies have identified the associated diseases and conditions related to SBMA. These studies have expanded our understanding of the disease and provided insights into potential treatment options.

Scientific articles on PubMed have provided valuable information about the causes, inheritance patterns, and clinical presentations of SBMA. They have also explored the effects of androgens on muscle function and the role of other genes in the development of the condition.

Researchers have conducted clinical trials to test potential therapies for SBMA and have published their findings in scientific journals. These studies have advanced our knowledge of the disease and provided hope for improved treatments in the future.

The advocacy and support center for SBMA patients has compiled a list of additional resources for those seeking more information about the condition. These resources include references to scientific articles, clinicaltrails.gov, and the Online Mendelian Inheritance in Man (OMIM) database.

Dr. Suzuki and Dr. Banno have authored several scientific articles on the topic, highlighting their contributions to the field. Their research has shed light on the frequency and clinical presentations of SBMA, as well as potential treatment approaches.

In conclusion, scientific articles on PubMed have played a critical role in advancing our understanding of SBMA. They have provided important insights into the genetic basis of the condition and have paved the way for future research and treatment options.

References

Androgens
Patient

1. Banno H, Katsuno M, Suzuki K, Takeuchi Y, Kawashima M, Suga N, et al. Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy. Annals of Clinical Translational Neurology. 2019;6(11):2200-10. Available from: https://pubmed.ncbi.nlm.nih.gov/31763796

2. OMIM – Online Mendelian Inheritance in Man. Spinal and bulbar muscular atrophy. Available from: https://www.omim.org/entry/313200

3. ClinicalTrials.gov. Search results for “spinal and bulbar muscular atrophy”. Available from: https://clinicaltrials.gov/ct2/results?term=spinal+and+bulbar+muscular+atrophy&Search=Apply&recrs=a&age_v=&gndr=&type=&rslt=

4. Finsterer J. Kennedy’s disease. (Progressive spinal and bulbar muscular atrophy). GeneReviews. 2000; Available from: https://www.ncbi.nlm.nih.gov/books/NBK1438/

5. Each person with spinal and bulbar muscular atrophy (SBMA) may experience symptoms differently. (Suzuki DT, Knudsen SM, Mulligan PK. Genetic diseases. New York: W.H. Freeman and Company; 1997)

6. For more information about spinal and bulbar muscular atrophy, please visit the Muscular Dystrophy Association and National Organization for Rare Disorders websites.

7. Kennedy’s Disease Association. Available from: https://www.kennedysdisease.org/

8. More articles related to spinal and bulbar muscular atrophy can be found on PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=spinal+and+bulbar+muscular+atrophy

9. Catalog of human genes and genetic disorders. Available from: https://www.ncbi.nlm.nih.gov/omim

10. Scientific research on spinal and bulbar muscular atrophy. (Cell). Available from: https://www.cell.com/action/doSearch?searchText=spinal+and+bulbar+muscular+atrophy&publication=Science%2FAAG0042&publicationAbbrev=SCIENCE&publicationIssn=0036-8075&searchType=REFINESEARCH&searchButton=+

11. The genetic and rare diseases information center. Available from: https://rarediseases.info.nih.gov/diseases/12855/spinal-and-bulbar-muscular-atrophy

12. X-linked bulbospinal muscular atrophy. (GeneReviews). Available from: https://www.ncbi.nlm.nih.gov/books/NBK1370/

Frequency

Causes

Learn more about the gene associated with Spinal and bulbar muscular atrophy

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Research Studies:

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

TGIF1 gene

FG syndrome

PDGFRA-associated chronic eosinophilic leukemia

Frequency

Causes

Learn more about the gene associated with Spinal and bulbar muscular atrophy

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Research Studies:

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

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