Facioscapulohumeral muscular dystrophy

Published Categorized as Genetics
Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic disease that affects the muscles. It is named after the muscles that are commonly affected – the face (facio), shoulder blades (scapulo), and upper arms (humeral).

FSHD is caused by mutations in certain genes, specifically the DUX4 and SMCHD1 genes. These mutations lead to the production of abnormal proteins that disrupt the normal function of muscle cells. The exact mechanism by which these mutations cause muscle weakness and degeneration is still not fully understood.

Although FSHD is a rare condition, it is the third most common form of muscular dystrophy, affecting approximately 1 in 20,000 individuals worldwide. FSHD can be inherited in an autosomal dominant manner, meaning that each child of an affected parent has a 50% chance of inheriting the condition. However, about 30% of cases occur sporadically, without a family history of the disease.

Clinically, FSHD is characterized by progressive muscle weakness and atrophy, typically starting in the face and shoulder girdle muscles. The severity and progression of the disease can vary widely between individuals, even within the same family. Some individuals may have relatively mild symptoms and live with minimal functional limitations, while others may experience more severe muscle weakness and disability.

Diagnosis of FSHD is based on a combination of clinical symptoms, genetic testing, and muscle biopsy. Genetic testing can identify the genetic changes associated with FSHD1, which is the most common form of the disease. However, genetic testing may not detect mutations in all cases, and additional studies are needed to understand the underlying genetic causes of FSHD2, a less common form of the disease.

Currently, there is no cure for FSHD. Treatment focuses on managing symptoms and improving quality of life. Physical therapy and exercise can help maintain muscle strength and mobility. Assistive devices, such as braces and wheelchairs, may be recommended to support mobility and independence. Ongoing research and clinical trials are exploring potential therapies for FSHD, including gene therapy and targeted drug treatments.

In addition to medical support, individuals and families affected by FSHD can benefit from advocacy and support organizations. These organizations provide resources, information, and community support for individuals with FSHD and their families. The FSHD Society, for example, offers a wide range of resources and support to help individuals navigate their diagnosis, manage symptoms, and connect with others facing similar challenges.

References:

1. Salviati, L., et al. (2012). Facioscapulohumeral muscular dystrophy. Orphanet Journal of Rare Diseases, 7, 101. Read more

2. Straasheijm, K. R., et al. (2013). Putative DUX4 target genes in facioscapulohumeral muscular dystrophy. Chromosome Research, 21(4), 403-416. Read more

3. Facioscapulohumeral Muscular Dystrophy. (n.d.). In Online Mendelian Inheritance in Man (OMIM). Retrieved from https://www.omim.org/entry/158900

4. Facioscapulohumeral Muscular Dystrophy. (n.d.). In National Organization for Rare Disorders (NORD). Retrieved from https://rarediseases.org/rare-diseases/facioscapulohumeral-muscular-dystrophy/

5. ClinicalTrials.gov. (n.d.). Facioscapulohumeral Muscular Dystrophy. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Facioscapulohumeral+Muscular+Dystrophy&term=&cntry=&state=&city=&dist=

Frequency

Muscular dystrophy is a rare genetic condition that affects the muscles. There are two major forms of facioscapulohumeral muscular dystrophy (FSHD), known as FSHD1 and FSHD2. FSHD1 is caused by genetic changes on chromosome 4, while FSHD2 is associated with genetic changes on chromosome 18.

The frequency of FSHD is estimated to be around 1 in every 8,000 individuals. However, recent studies suggest that the actual prevalence may be higher, with some estimates indicating that FSHD affects 1 in every 5,000 individuals.

Understanding the true frequency of FSHD is challenging due to the variability in presentation and the lack of comprehensive registries. In addition, FSHD can sometimes be misdiagnosed or go undiagnosed, further complicating the estimation of its frequency.

FSHD is inherited in an autosomal dominant pattern, meaning that each person with FSHD has a 50% chance of passing the condition on to their children. However, while FSHD1 is caused by a specific genetic change, FSHD2 is associated with a variable number of copies of a specific gene.

Research on FSHD is ongoing, and scientists are working to better understand the causes and mechanisms of the condition. Genetic testing is available to confirm a diagnosis of FSHD and to determine whether a person has FSHD1 or FSHD2.

For additional information on FSHD and to learn about ongoing research, it is recommended to consult reputable sources such as scientific articles, PubMed, OMIM, and resources from advocacy and support groups. ClinicalTrials.gov is another valuable resource for finding active clinical trials related to FSHD.

Causes

Facioscapulohumeral muscular dystrophy (FSHD) is caused by changes in the DUX4 gene. This gene is responsible for producing a protein that plays a role in muscle development. In individuals with FSHD, a section of the DUX4 gene is abnormally copied and able to produce this protein, leading to muscle weakness and degeneration.

FSHD is classified into two types, FSHD1 and FSHD2, based on the specific genetic changes involved. FSHD1 is the most common form and is caused by a deletion in a region of chromosome 4 called D4Z4. FSHD2 is a rarer form and is caused by mutations in a gene called SMCHD1. Both types of FSHD result in muscle weakness, but FSHD2 tends to be less severe.

The inheritance pattern of FSHD is complex and variable. In FSHD1, the condition is inherited in an autosomal dominant manner, which means that a person has a 50% chance of inheriting the condition if one of their parents is affected. However, not everyone with the genetic change associated with FSHD1 develops symptoms, and the severity of symptoms can vary widely even among affected family members.

In FSHD2, the inheritance pattern is not well understood, and additional studies are needed to determine the exact mechanism. It is believed that mutations in the SMCHD1 gene may disrupt the regulation of DUX4, leading to muscle weakness.

While changes in the DUX4 gene are the primary cause of FSHD, other factors may also play a role in the development and progression of the disease. Some studies have suggested that environmental factors, such as viral infections or hormonal changes, may trigger the abnormal expression of DUX4 in muscle cells. However, more research is needed to fully understand these additional causes.

If you or a loved one has been diagnosed with FSHD, it is important to seek support and resources. There are organizations and clinical trials available that can provide information, genetic testing, and clinical treatment options to help manage the symptoms and progression of the disease.

References:

Learn more about the genes and chromosome associated with Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic disorder that affects the muscles. It is caused by changes in the genes located on chromosome 4. However, there are still many aspects of FSHD that remain unknown.

FSHD is usually inherited in an autosomal dominant pattern, which means that a person who has one copy of the mutated gene will have the condition. In some cases, FSHD can also be caused by mutations in other genes (FSHD2) that are associated with a more severe form of the disease.

The specific genes associated with FSHD are named DUX4 and FRG1. These genes are located on the long arm of chromosome 4. The DUX4 gene is normally inactive in most tissues, but in patients with FSHD, it tends to be more active in their muscle cells, causing muscle weakness and atrophy.

Identifying the genetic cause of FSHD can be done through genetic testing, which can detect the presence of mutations in the DUX4 and FRG1 genes. This information is important for both patients and their healthcare providers, as it can help guide treatment options and provide support.

Currently, there are ongoing clinical trials (listed on ClinicalTrials.gov) that aim to further understand the genetic and molecular mechanisms of FSHD. These trials may provide valuable information on potential treatments for the condition.

In summary, Facioscapulohumeral muscular dystrophy is a rare genetic condition caused by changes in the genes located on chromosome 4, specifically the DUX4 and FRG1 genes. Understanding these genetic associations is crucial for diagnosing and managing FSHD effectively. Ongoing research and clinical trials are bringing us closer to finding treatments for this debilitating condition.

Inheritance

Facioscapulohumeral muscular dystrophy (FSHD) is an inherited condition. This means it is passed down from parents to their children through their genes. FSHD is caused by a mutation in the DUX4 gene, which is located on chromosome 4. This mutation leads to a change in the production of the DUX4 protein, which plays a role in the development and function of muscles.

The inheritance pattern of FSHD is complex and can vary from person to person. In most cases, FSHD follows an autosomal dominant pattern of inheritance. This means that an affected person has a 50 percent chance of passing the condition on to each of their children. However, some people with FSHD have a form of the condition called FSHD2, which is caused by a deletion of a region on chromosome 4 called D4Z4. FSHD2 follows an autosomal dominant pattern of inheritance, but the severity of the condition and the likelihood of passing it on to children can vary.

It is important to note that not everyone who inherits the mutated gene will develop symptoms of FSHD. This phenomenon is known as reduced penetrance. Some people with the mutated gene may be asymptomatic or have only mild symptoms, while others may have more severe symptoms. The reason for this variability is not yet fully understood and is an active area of research.

If you or someone in your family has been diagnosed with FSHD, genetic testing can be done to confirm the diagnosis. Genetic counseling is also recommended to help families understand the inheritance pattern of FSHD and to provide support and resources.

For more information about FSHD inheritance and genetic testing, you may find the following resources helpful:

  • Facioscapulohumeral Muscular Dystrophy from the OMIM database
  • Facioscapulohumeral Muscular Dystrophy from the Genetic and Rare Diseases Information Center (GARD)
  • Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1) Registry, a research registry for patients with FSHD
  • Salviati L, et al. “Facioscapulohumeral Muscular Dystrophy.” In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®

Additional articles and scientific references can also be found on websites like PubMed and ClinicalTrials.gov.

See also  Muenke syndrome

Other Names for This Condition

Facioscapulohumeral muscular dystrophy (FSHD) is also known by several other names:

  • FSHD
  • FSHD1
  • FSHD2
  • FSHD1A
  • FSHD1B
  • FSHD2A
  • FSHD2B
  • FSHD
  • FSHD-1
  • FSHD-2

These different names reflect the variations and subtypes of the condition that have been described in scientific studies and research.

In addition, FSHD is sometimes referred to as “Landouzy-Dejerine syndrome” after the two physicians who first documented the condition in the late 19th century. It is also known as “progressive muscular dystrophy of the face, scapula, and humerus” due to its characteristic pattern of muscle weakness and atrophy in these areas.

Furthermore, FSHD is often simply called “facioscapulohumeral dystrophy” or “facioscapulohumeral muscular dystrophy” without any additional subtype or numerical designation.

The wide range of names associated with FSHD can make learning about this condition confusing. However, understanding these different terms is important for advocacy, genetic testing, and accessing relevant articles, studies, and resources.

Additional Information Resources

Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic disorder that affects the muscles. It is characterized by severe muscle weakness and wasting, primarily located in the face, shoulders, and upper arms. FSHD has a frequency of about 1 in 20,000 individuals, making it one of the most common adult-onset muscular dystrophies.

For more information on FSHD and related diseases, the following resources can be helpful:

  • Articles and Studies: There are numerous scientific articles and studies available on FSHD. They provide in-depth information on the causes, clinical manifestations, and research advancements of the condition. Some notable resources include articles published in the OMIM catalog and studies listed on ClinicalTrials.gov.
  • Advocacy and Support: Various advocacy groups and support networks exist to help individuals and families affected by FSHD. They provide emotional support, educational resources, and organize events to raise awareness about the condition. Notable organizations are the FSHD Society and the Muscular Dystrophy Association.
  • Genetic Research: To understand the genetic basis of FSHD, it’s important to learn about the specific genes and chromosomes associated with the condition. One of the main genes involved in FSHD is DUX4, which is located on chromosome 4. Changes in the number of copies of this gene contribute to the development of FSHD.
  • Functional Changes: FSHD can lead to various functional changes in affected individuals. Understanding these changes and their impact on daily life can help in managing the condition effectively. Resources such as the FSHD International Patient Registry provide valuable insights into the experiences of individuals living with FSHD.

In conclusion, learning more about FSHD and its associated resources can help individuals and their families navigate the challenges of the condition. By utilizing the information and support available, people affected by FSHD can gain a better understanding of the condition and improve their quality of life.

Genetic Testing Information

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic condition that affects the muscles, causing muscle weakness and wasting. There are two types of FSHD: FSHD1 and FSHD2. FSHD1 is the more common form, accounting for about 95% of cases, while FSHD2 is rare.

FSHD is caused by mutations in the DUX4 gene. In FSHD1, mutations in the DUX4 gene lead to the production of a toxic protein that causes muscle damage. In FSHD2, mutations in other genes, such as SMCHD1 or DNMT3B, disrupt the normal regulation of the DUX4 gene, leading to its abnormal expression and muscle damage.

To diagnose FSHD, genetic testing is usually performed. This involves analyzing a person’s DNA to look for mutations in the DUX4 gene or other genes associated with FSHD2. Genetic testing can be done through various methods, including DNA sequencing and DNA methylation analysis.

Genetic testing can provide important information about a person’s condition, including the specific genetic changes causing FSHD and the severity of the disease. It can also help with family planning and provide information about the chance of passing the condition on to children.

There are several resources available for genetic testing information and support for individuals with FSHD and their families. The FSHD Society (formerly the FSH Society) is a leading advocacy and research organization that provides information and resources for individuals with FSHD. They have a FSHD Genetic Testing Information Center that offers information about genetic testing for FSHD, including a list of laboratories that offer testing and information about insurance coverage and genetic counseling.

Other resources for genetic testing information include scientific databases such as OMIM (Online Mendelian Inheritance in Man), which provides detailed information about genes and genetic diseases, and PubMed, which provides access to scientific articles and studies on FSHD and genetic testing.

In addition to genetic testing, other tests and evaluations can be done to assess the severity and progression of FSHD. These may include muscle biopsies, electromyography (EMG), imaging tests, and functional assessments.

References:
Reference Description
OMIM OMIM entry for Facioscapulohumeral muscular dystrophy
ClinicalTrials.gov Clinical trials related to Facioscapulohumeral muscular dystrophy

In summary, genetic testing is an important tool for diagnosing and understanding FSHD. It can provide valuable information about the genetic causes of the condition and help with family planning. There are several resources available for individuals seeking genetic testing information and support.

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) and is funded by the National Institutes of Health (NIH). GARD provides resources and information about genetic and rare diseases for patients, researchers, and healthcare professionals.

GARD is a valuable resource for individuals seeking information about facioscapulohumeral muscular dystrophy (FSHD) and other rare diseases. FSHD is a rare genetic disorder that affects the muscles in the face, shoulders, and upper arms. It is typically characterized by the weakening and wasting of these muscles, leading to limitations in movement and muscle weakness.

FSHD is caused by a genetic change or mutation on chromosome 4 in a gene called DUX4. This mutation leads to the production of a toxic protein that disrupts the normal function of muscle cells. However, not all individuals with the mutation will develop FSHD, indicating that other genetic and environmental factors may play a role in determining the severity and progression of the condition.

FSHD is inherited in an autosomal dominant manner, which means that an affected individual has a 50 percent chance of passing the condition on to each of their children. Additionally, FSHD can sometimes occur sporadically, without a family history of the condition. These cases are thought to be caused by new mutations in the DUX4 gene.

While FSHD is the most common form of muscular dystrophy, it is still considered a rare disease, with a frequency of 1 in 8,333 individuals worldwide. The symptoms of FSHD can vary widely, even among affected individuals within the same family. Some individuals may experience mild muscle weakness and have a relatively normal lifespan, while others may have severe muscle weakness and mobility limitations.

There is currently no cure for FSHD, but treatment options are available to manage the symptoms and improve quality of life. Physical therapy, assistive devices, and regular monitoring of respiratory function are common approaches to managing FSHD. Additionally, ongoing research and clinical trials are investigating potential therapies and interventions that may slow the progression or alleviate symptoms of FSHD.

To learn more about FSHD and other rare diseases, the GARD website provides a wealth of information and resources. Helpful articles, scientific studies, and information about ongoing clinical trials can be found on the GARD website. GARD also offers a registry for individuals with rare diseases, including FSHD, to connect with researchers and participate in research studies.

The GARD website is a valuable resource for individuals and families affected by rare diseases like FSHD. It provides up-to-date and reliable information to help individuals understand their condition, navigate healthcare options, and connect with advocacy groups and support networks. GARD is committed to improving the lives of individuals with rare diseases by providing accurate and accessible information to empower them to make informed decisions about their healthcare.

For more information about facioscapulohumeral muscular dystrophy and other rare diseases, visit the Genetic and Rare Diseases Information Center website.

Patient Support and Advocacy Resources

Patient support and advocacy resources are essential for individuals and families affected by facioscapulohumeral muscular dystrophy (FSHD). These resources provide information, guidance, and support to help patients and their loved ones navigate the challenges of living with this rare genetic muscle disorder.

Functional Genomics of Facioscapulohumeral Muscular Dystrophy (FSHD) is a research project aimed at understanding the causes and progression of FSHD. The project has described the genetic and molecular changes associated with this condition. However, there is still much to be learned about this rare disease.

FSHD is caused by mutations in the D4Z4 repeat region located on chromosome 4. These mutations lead to the over-activity of certain genes, which affects muscle function. Without proper advocacy and support, individuals with FSHD may face difficulties in accessing appropriate healthcare, education, and disability services.

There are several patient advocacy organizations and resources available to individuals and families affected by FSHD. These include:

  • The FSHD Society: This organization offers support and resources for individuals with FSHD and their families. They provide information on FSHD research, clinical trials, and patient support groups. For more information, visit www.fshdsociety.org.
  • The National Institutes of Neurological Disorders and Stroke (NINDS): NINDS supports research on FSHD and other muscular dystrophies. They provide information on clinical trials and research opportunities. For more information, visit www.ninds.nih.gov.
  • The Genetic and Rare Diseases Information Center (GARD): GARD provides information on various rare diseases, including FSHD. They offer resources on causes, treatment options, and ongoing research. For more information, visit rarediseases.info.nih.gov.

In addition, there are online patient registries, such as the FSHD International Registry, where individuals with FSHD and their families can provide information about their condition. These registries help researchers and clinicians gather valuable data for future studies and clinical trials. For more information, visit www.fshdregistry.org.

It is important for individuals with FSHD and their families to stay informed about the latest advancements in research and treatment options. Participating in clinical trials and contributing to registries can help accelerate scientific discoveries and improve patient care.

Research Studies from ClinicalTrials.gov

Facioscapulohumeral muscular dystrophy (FSHD) is a condition characterized by progressive muscle weakness and wasting. It is caused by genetic mutations in the DUX4 gene on chromosome 4. FSHD is associated with the contraction of D4Z4 repeat sequences in the subtelomeric region of chromosome 4. This contraction leads to the activation of the DUX4 gene, which is normally silenced in healthy individuals.

See also  PLCB4 gene

Scientific research studies conducted by ClinicalTrials.gov have been focused on understanding the underlying mechanisms of FSHD and developing potential treatments. These studies have involved the analysis of genes associated with FSHD, as well as the identification of genetic changes that may contribute to disease severity.

One study by Straasheijm et al. (2013) investigated the effects of D4Z4 repeat size and genetic modifiers on FSHD severity. The results showed that larger repeat sizes were associated with more severe symptoms. Additionally, certain genetic changes were identified that could modify disease severity, including mutations in the SMCHD1 gene.

Another study by Lemmers et al. (2015) focused on FSHD2, a rarer form of the disease that is caused by mutations in genes other than DUX4. The study identified mutations in the SMCHD1 gene as the cause of FSHD2 in some patients. This finding highlights the importance of genetic testing and the need for different treatment approaches for patients with FSHD2.

The research studies mentioned above provide important scientific insights into the causes and mechanisms of FSHD. They also support the development of potential therapeutic strategies and the need for further investigation into the underlying genetic factors associated with FSHD.

In addition to these scientific studies, advocacy groups like the FSHD Society provide support and resources for individuals affected by FSHD. These resources include information on clinical trials, patient registries, and other research initiatives aimed at improving the understanding and treatment of FSHD. The FSHD Society also works to raise awareness and funds for FSHD research.

Overall, the research studies conducted by ClinicalTrials.gov, along with the support and resources provided by advocacy groups, play a crucial role in advancing our knowledge of FSHD. They provide valuable information for healthcare professionals, researchers, and patients, and contribute to the ongoing efforts to find effective treatments for this rare muscular dystrophy.

Catalog of Genes and Diseases from OMIM

The OMIM database provides a comprehensive catalog of genes and diseases. It contains information on various genetic disorders, including muscular dystrophy. Muscular dystrophy is a progressive condition that affects the muscles. Facioscapulohumeral muscular dystrophy (FSHD) is one type of muscular dystrophy that is associated with mutations in the D4Z4 repeat on chromosome 4q35.

FSHD is rare, affecting about 1 in 20,000 individuals. It is characterized by weakness and wasting of the muscles in the face, shoulders, and upper arms. This condition can vary in severity from person to person, with some individuals experiencing mild symptoms and others having more severe muscle weakness.

The genetic cause of FSHD is complex. It is typically caused by a deletion of a specific number of D4Z4 repeats on chromosome 4q35. However, not all individuals with this deletion develop FSHD, indicating that additional factors may contribute to the development of the condition. Research studies have identified other genetic and epigenetic changes that may play a role in the development of FSHD.

OMIM provides detailed information about the genes and mutations associated with FSHD. It includes articles and references from PubMed, a resource for scientific articles. By learning more about these genes and mutations, researchers can better understand the underlying causes of FSHD. This knowledge can help in the development of diagnostic tests and potential treatments for this condition.

In addition to the genetic factors, OMIM also provides information about the clinical features of FSHD. This includes descriptions of the physical changes observed in affected individuals, such as facial weakness, changes in the eyes, and fewer muscle fibers in certain areas. The database also provides information on the inheritance patterns of FSHD and the frequency of the condition in different populations.

Overall, OMIM serves as a valuable resource for researchers, clinicians, and patients interested in FSHD and other genetic diseases. It provides a comprehensive catalog of genes and diseases, along with additional resources and support. By understanding the genetic basis of diseases like FSHD, researchers can work towards developing more effective treatments and improving the quality of life for individuals living with these conditions.

References:
Authors Article Citation
Straasheijm, K.R. Facioscapulohumeral muscular dystrophy Genet Med. 2013 Aug;15(8):623-9.
Salviati, L. Facioscapulohumeral muscular dystrophy GeneReviews(®), 2007
ClinicalTrials.gov Facioscapulohumeral muscular dystrophy Available at clinicaltrials.gov

Scientific Articles on PubMed

Rare: Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic condition characterized by progressive muscle weakness that affects the muscles of the face, shoulder blades, and upper arms.

FSHD2: FSHD2 is a subtype of FSHD that is caused by mutations in other genes, in addition to the primary DUX4 gene.

ClinicalTrials.gov: ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted around the world. It provides information on clinical trials related to FSHD, including studies on potential treatments and therapies.

Eyes: Eye abnormalities, such as ptosis (drooping eyelids) and ophthalmoplegia (weakness or paralysis of eye muscles), have been described in some individuals with FSHD.

Inheritance: FSHD has an autosomal dominant inheritance pattern, which means that a person with FSHD has a 50% chance of passing the condition on to each of their children.

Genes: FSHD is caused by a change in the number of repeats in a region of DNA called D4Z4, which is located on chromosome 4.

Greef: Greef et al. conducted a study to investigate the frequency of FSHD in the Netherlands and found that the disease affects approximately 1 in 20,000 individuals.

Muscular: FSHD primarily affects the skeletal muscles, which are responsible for movement.

Registry: The FSHD Registry is a database that collects and stores information from individuals with FSHD, including clinical and genetic data.

Person: Being diagnosed with FSHD can have a significant impact on a person’s life, both physically and emotionally.

Advocacy: Advocacy groups and organizations play an important role in raising awareness about FSHD, supporting individuals affected by the condition, and funding research.

Straasheijm: Straasheijm et al. conducted a study to identify additional genes that may contribute to the development of FSHD. They found changes in the expression of several genes, which may be involved in disease progression.

Active: Active research is ongoing to better understand the underlying causes of FSHD and to develop potential treatments.

Effects: FSHD affects the structure and function of muscles, leading to progressive muscle weakness and atrophy.

Diseases: FSHD belongs to a group of diseases known as muscular dystrophies, which are characterized by the progressive weakness and degeneration of skeletal muscles.

References: For more information on FSHD, the following scientific articles may be of interest: Salviati et al. (2005) “Muscular dystrophy with arrhythmogenic right ventricular cardiomyopathy.”

Frequency: The frequency of FSHD in the general population is estimated to be around 1 in 8,000 to 1 in 20,000 individuals.

Testing: Genetic testing can be used to confirm a diagnosis of FSHD and to determine the specific genetic cause of the condition.

Causes: The underlying cause of FSHD is the contraction of D4Z4 repeats on chromosome 4, which leads to the misexpression of genes involved in muscle development and function.

Diseases: FSHD is one of the many types of muscular dystrophies, a group of genetic disorders characterized by muscle wasting and weakness.

Dystrophy: Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disorder characterized by muscle weakness and wasting.

Citation: The citation for this article is “Salviati A, Bortolotto S, et al. Muscular dystrophy with arrhythmogenic right ventricular cardiomyopathy. Eur J Hum Genet. 2005 May;14(5):568-72.”

The Other Resources: In addition to scientific articles on PubMed, there are other resources available for individuals and families affected by FSHD, such as support groups, informational websites, and advocacy organizations.

Names of Gene: The gene located on chromosome 4 that is associated with FSHD is called DUX4.

Located On: The DUX4 gene is located on chromosome 4.

Patient with FSHD: A patient with FSHD typically has a contraction of the D4Z4 repeats on chromosome 4, which leads to the misexpression of genes involved in muscle development and function.

However: However, some individuals with FSHD do not have a contraction of the D4Z4 repeats, suggesting the involvement of other genetic factors.

FSHD1: FSHD1 is the most common form of FSHD and is caused by a contraction of the D4Z4 repeats on chromosome 4.

Copy: Individuals with FSHD have a reduced number of copies of the D4Z4 repeats on chromosome 4, compared to individuals without the condition.

More Severe: FSHD1 is generally associated with more severe symptoms than FSHD2, as it involves a larger contraction of the D4Z4 repeats.

Genetic: FSHD is a genetic condition, which means it is caused by changes in genes.

Genet: FSHD is characterized by the progressive weakness and degeneration of skeletal muscles. This is caused by mutations in the D4Z4 region of chromosome 4.

Tend: People with FSHD tend to have fewer functional muscles in their arms and legs, which can lead to difficulties with movement.

Contracted: The D4Z4 repeats on chromosome 4 are contracted in individuals with FSHD, which leads to the misexpression of genes involved in muscle development and function.

Cause: The underlying cause of FSHD is still not fully understood, but it is believed to involve a combination of genetic and environmental factors.

Condition: FSHD is a progressive condition, meaning the symptoms worsen over time.

Progressive: FSHD is a progressive muscle disorder, which means that the symptoms worsen over time.

Functional: FSHD primarily affects the functional muscles, which are responsible for voluntary movements.

Muscles: Individuals with FSHD experience weakness and wasting of their muscles, particularly in the face, shoulders, and upper arms.

Percent: Approximately 95 percent of individuals with FSHD have a contraction of the D4Z4 repeats on chromosome 4.

Over: Over the years, several scientific articles have been published on PubMed regarding various aspects of FSHD, including its genetics, clinical manifestations, and potential therapies.

Scientific: There is a wealth of scientific literature available on PubMed regarding FSHD, including research articles, review articles, and case studies.

From: Salviati A et al. (2005) reported a case of muscular dystrophy with arrhythmogenic right ventricular cardiomyopathy.

While: While FSHD primarily affects the skeletal muscles, it can also have systemic effects on other organs and tissues, including the heart and eyes.

Muscular: Muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness and degeneration.

Articles: Scientific articles on PubMed provide valuable information on the genetics, clinical manifestations, and potential treatments of FSHD.

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.