Pelizaeus-Merzbacher disease (PMD) is a rare genetic condition that affects the nerve cells of the brain. It is named after the physicians Friedrich Pelizaeus and Ludwig Merzbacher, who first described the disease in the 19th century.

PMD is caused by mutations in the PLP1 gene, which provides instructions for making proteins that are essential for the formation and maintenance of myelin. Myelin is a substance that surrounds and insulates nerve fibers, allowing them to transmit electrical signals efficiently. Without proper myelin, the nerves in the brain and spinal cord cannot function properly.

There are several different forms of PMD, each with varying degrees of severity. The classic form, known as connatal PMD, is the most severe and typically presents at birth or in early infancy. Other forms include transitional PMD and adult-onset PMD. These forms are typically less severe and may not become apparent until later in childhood or even adulthood.

PMD is estimated to occur in about 1 in 200,000 to 500,000 individuals worldwide. The frequency of the disease may vary among different populations. Inheritance of PMD can be X-linked recessive, autosomal recessive, or autosomal dominant, depending on the specific mutation and family history.

To diagnose PMD, genetic testing can be performed to identify mutations in the PLP1 gene. Additional testing, such as magnetic resonance imaging (MRI), can help visualize abnormalities in the brain’s white matter, which is typically seen in individuals with PMD.

Although there is no cure for PMD, there are treatments and interventions that can help manage the symptoms and improve quality of life for affected individuals. Physical therapy, occupational therapy, and speech therapy can be beneficial in addressing developmental delays and improving motor skills. Medications may also be prescribed to help manage symptoms such as muscle stiffness and seizures.

Part of the reason for these long wait times and short appointments is due to a nationwide shortage of physicians that is only getting worse. A report by the Association of American Medical Colleges predicts that, due to population growth and specifically growth of the elderly population, the physician shortfall in the U.S. could reach 121,300 by the year 2030.

Research studies and clinical trials are ongoing to further understand the causes and mechanisms of PMD, as well as to develop potential treatments. Organizations and advocacy groups, such as the Pelizaeus-Merzbacher Disease Foundation, provide support and resources for individuals and families affected by PMD.

For more information about Pelizaeus-Merzbacher disease, you can visit the OMIM (Online Mendelian Inheritance in Man) database, as well as the NIH (National Institutes of Health) website, PubMed. These resources provide access to scientific articles and references related to the disease, as well as information on ongoing research and clinical trials.

Frequency

Pelizaeus-Merzbacher disease (PMD) is a rare genetic condition that affects the myelin, the protective coating around nerve cells. It is estimated to occur in approximately 1 in 200,000 to 500,000 live births.

PMD is caused by mutations in the PLP1 gene, which provides instructions for making proteins that are essential for the production and maintenance of myelin in the central nervous system. Mutations in the DM20 isoform of the PLP1 gene are associated with the classic and connatal forms of the disease.

The frequency of PLP1-related disorders, including PLP1 gene mutations, is estimated to be around 1 in 30,000 to 40,000 individuals. This includes individuals with PMD as well as those with other related conditions such as spastic paraplegia 2, X-linked intellectual disability, and PMD-related disorders.

Information on the frequency of PMD and related diseases can be found in scientific articles, research papers, and databases such as OMIM (Online Mendelian Inheritance in Man) and the Human Gene Mutation Database (HGMD).

Advocacy and support groups, such as the Pelizaeus-Merzbacher Disease Foundation, provide resources for patients and their families to learn more about the frequency of the disease and other related conditions. They also offer information on genetic testing, clinical trials, and additional support.

For more information about the frequency of Pelizaeus-Merzbacher disease and its associated genetic causes, visit the following resources:

• OMIM (Online Mendelian Inheritance in Man): https://www.omim.org/
• PubMed: https://pubmed.ncbi.nlm.nih.gov/
• ClinicalTrials.gov: https://clinicaltrials.gov/
• The Pelizaeus-Merzbacher Disease Foundation: https://www.pelizaeus-merzbacher.org/

These resources can provide valuable information for patients, families, and healthcare professionals seeking to learn more about the frequency of Pelizaeus-Merzbacher disease and its associated conditions.

Causes

The main cause of Pelizaeus-Merzbacher disease is a genetic mutation in the PLP1 gene, which provides instructions for making a protein called proteolipid protein 1 (PLP1). This protein is essential for the formation and maintenance of myelin, a fatty substance that surrounds and protects nerve fibers.

There are different types of Pelizaeus-Merzbacher disease, each associated with specific mutations in the PLP1 gene. The classic form of the disease is caused by mutations in the PLP1 gene that result in a deficiency of PLP1 protein. Another form, known as the connatal form, is caused by mutations that disrupt the function of another protein called DM20, which is also produced from the PLP1 gene.

These genetic mutations lead to abnormalities in the production and structure of myelin. Without properly functioning myelin, the nerves in the brain and spinal cord cannot transmit signals effectively, resulting in the symptoms associated with Pelizaeus-Merzbacher disease.

Pelizaeus-Merzbacher disease is inherited in an X-linked recessive pattern, which means that the condition mostly affects males. Females can be carriers of the mutated gene and have a 50% chance of passing it on to their children. In rare cases, females can also develop symptoms of the disease if they inherit two copies of the mutated gene.

The frequency of Pelizaeus-Merzbacher disease is estimated to be 1 in 200,000 to 500,000 births. Genetic testing can be done to confirm a diagnosis and identify the specific gene mutations associated with the condition.

Research studies and clinical trials are ongoing to learn more about the causes and potential treatments for Pelizaeus-Merzbacher disease. Additional information and resources can be found at advocacy organizations, research centers, and reputable websites, such as OMIM, PubMed, and ClinicalTrials.gov.

Learn more about the gene associated with Pelizaeus-Merzbacher disease

Pelizaeus-Merzbacher disease (PMD) is a rare genetic condition that affects the nerves in the body. Patients with PMD have a mutation in the gene known as PLP1, which is responsible for producing a type of protein called proteolipid protein 1 (PLP1).

PLP1 is a key component of myelin, the protective covering that surrounds nerve cells. Myelin plays a crucial role in the transmission of electrical signals along the nerves. In patients with PMD, the mutation in the PLP1 gene leads to a deficiency or abnormality in the production of PLP1, resulting in faulty myelin formation.

Studies and research have shown that mutations in the PLP1 gene can cause different types of PMD, including the classic form and other related conditions. The inheritance pattern of PMD associated with PLP1 mutations is X-linked recessive.

To learn more about the gene PLP1 and how it causes Pelizaeus-Merzbacher disease, you can refer to the following scientific resources:

1. Online Mendelian Inheritance in Man (OMIM): This database provides detailed information about genes, genetic disorders, and their associated conditions. Search for “PLP1” to find information specific to this gene.
2. PubMed: This platform hosts a wide range of scientific articles on neurology and genetics. Searching for “PLP1” or “Pelizaeus-Merzbacher disease” will yield research studies and clinical trials related to the gene and the disease.
3. PLP1-related disorders: The National Center for Biotechnology Information (NCBI) provides a comprehensive catalog of genetic diseases associated with PLP1 mutations. This resource includes information on other diseases caused by mutations in the PLP1 gene.
4. Patient advocacy and support groups: Organizations dedicated to rare genetic diseases often provide additional resources, support, and information about the latest research and clinical trials for Pelizaeus-Merzbacher disease.
5. Genetic testing: If you or someone you know has been diagnosed with Pelizaeus-Merzbacher disease, genetic testing can provide additional insights into the specific mutation in the PLP1 gene. This information can help in understanding the condition and exploring potential treatment options.

By learning more about the gene associated with Pelizaeus-Merzbacher disease, you can gain a better understanding of the underlying cause and explore available resources and support for patients and their families.

Inheritance

Pelizaeus-Merzbacher disease (PMD) is a rare genetic condition that affects the myelin, the protective covering of nerve cells. PMD is caused by mutations in the PLP1 gene, which provides instructions for making a protein called proteolipid protein 1 (PLP1). This protein is essential for the production and maintenance of myelin in the central nervous system.

The inheritance of PMD is X-linked recessive, which means that the gene mutation is located on the X chromosome. As a result, PMD primarily affects males. Females can also be carriers of the gene mutation, but they typically do not experience the symptoms of the disease.

About 60% of PMD cases are caused by mutations within the PLP1 gene. The remaining cases are caused by mutations in other genes, such as GJC2 and GJA12, which are associated with different forms of the disease. These other forms of the disease may have distinct clinical presentations and inheritance patterns.

The frequency of PMD is estimated to be about 1 in 200,000 births. However, the exact prevalence of the disease may be higher due to underdiagnosis and misdiagnosis.

Diagnostic testing for PMD can be done through genetic testing to identify mutations in the PLP1 gene. Genetic counseling may also be recommended for individuals and families who have a family history of PMD.

Support for individuals and families affected by PMD can be found through advocacy organizations such as the National Organization for Rare Disorders (NORD) or the Pelizaeus-Merzbacher Disease Foundation. These organizations provide resources, information, and support for individuals and families dealing with the challenges of this rare disease.

Scientific research on PMD and related diseases is ongoing, with numerous studies published in scientific journals and indexed on PubMed. Additional information and references can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and clinicaltrialsgov.

In summary, Pelizaeus-Merzbacher disease is a rare genetic condition with an X-linked recessive inheritance pattern. It is primarily caused by mutations in the PLP1 gene, which affect the production and maintenance of myelin in nerve cells. Genetic testing and resources from advocacy organizations can provide support for individuals and families affected by this rare disease.

Other Names for This Condition

Pelizaeus-Merzbacher disease is also known by several other names. Some of the alternative names for this condition include:

• Connatal Pelizaeus-Merzbacher Disease
• PMD
• PLP1-Related Disorders
• Proteolipid Protein 1-Related Disorders
• Pelizaeus-Merzbacher-like Disease
• Leukodystrophy, Pelizaeus-Merzbacher Type

These terms are all scientifically recognized and used in the medical community to refer to different aspects of the condition. They help researchers and healthcare professionals better understand and categorize the various genetic diseases related to Pelizaeus-Merzbacher disease.

For more information about these other names and related conditions, you can visit the Pelizaeus-Merzbacher Disease Information Page on the National Institute of Neurological Disorders and Stroke (NINDS) website. The NINDS is a center within the National Institutes of Health (NIH) that conducts research and provides resources and support for individuals affected by genetic diseases like Pelizaeus-Merzbacher disease.

In addition, you can learn more about the genetic inheritance and frequency of Pelizaeus-Merzbacher disease on the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic disorders, and it provides valuable information about the associated genes and proteins for various diseases, including Pelizaeus-Merzbacher disease.

The PubMed database also contains numerous scientific articles and studies on Pelizaeus-Merzbacher disease and its associated genes, proteins, and clinical manifestations. You can search PubMed for more in-depth information on specific topics related to this condition.

For families and patients seeking diagnostic testing and research opportunities, the ClinicalTrials.gov website provides information on ongoing clinical trials and research studies related to Pelizaeus-Merzbacher disease. This can help individuals find potential new treatments or participate in studies that advance our understanding of the disease.

Advocacy organizations, such as the Pelizaeus-Merzbacher Disease Foundation, also offer additional resources and support for individuals and families affected by this condition. These organizations can provide guidance, education, and community connections for individuals living with Pelizaeus-Merzbacher disease and their loved ones.

Additional Information Resources

In addition to the information provided, there are several resources available for those interested in learning more about Pelizaeus-Merzbacher disease and related conditions:

• Genetic Testing: Genetic testing can help confirm a diagnosis of Pelizaeus-Merzbacher disease and identify specific gene mutations. Contact a genetic testing center or speak with a healthcare professional for more information.
• OMIM: Online Mendelian Inheritance in Man (OMIM) provides a comprehensive database of genetic disorders, including Pelizaeus-Merzbacher disease. Visit the OMIM website for detailed information on the disease and associated genes.
• PubMed: PubMed is a scientific publication database that contains articles and studies about Pelizaeus-Merzbacher disease. Search for keywords like “Pelizaeus-Merzbacher disease” or “PLP1 gene” to find relevant research articles.
• Advocacy Organizations: Several advocacy organizations provide support and information for individuals and families affected by Pelizaeus-Merzbacher disease. These organizations can offer resources, connections to other families, and support groups. Some examples include the Pelizaeus-Merzbacher Disease Foundation and the National Organization for Rare Disorders.
• Center for Disease Control and Prevention (CDC): The Center for Disease Control and Prevention has information on Pelizaeus-Merzbacher disease and other neurological disorders. Their website provides information on causes, symptoms, and treatment options.
• Neurol Genetics: Neurol Genetics is a scientific journal that publishes research articles on various genetic disorders, including Pelizaeus-Merzbacher disease. Visit their website to access the latest studies and advancements in the field.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry and database of clinical trials worldwide. This resource allows individuals to search for ongoing research studies related to Pelizaeus-Merzbacher disease and potential treatment options.
• Pelizaeus-Merzbacher Disease Catalog: The Pelizaeus-Merzbacher Disease Catalog is a comprehensive database that provides information on various aspects of the disease, including clinical characteristics, associated genes, and references to relevant scientific articles.

These resources can provide additional information and support for individuals and families affected by Pelizaeus-Merzbacher disease, as well as researchers and healthcare professionals involved in the field.

Genetic Testing Information

Pelizaeus-Merzbacher disease (PMD) is a rare genetic condition that affects the nerves and myelin, the protective covering around nerve cells. It is caused by mutations in the PLP1 gene, which provides instructions for making the proteolipid protein (PLP1). PLP1 is essential for the formation and maintenance of myelin in the central and peripheral nervous systems.

Genetic testing is available to diagnose PMD, as well as to determine the specific genetic mutation associated with the disease. This testing can help provide a conclusive diagnosis and assist with the identification of other affected individuals within the family.

There are different types of PMD, including classic PMD and connatal PMD, which have different clinical features and degrees of severity. Gene testing can also provide information about the inheritance pattern and the frequency of the mutation in different populations.

Studies have shown that PLP1-related diseases are associated with an estimated frequency of about 1 in 200,000 individuals. However, the actual frequency may be higher due to the underdiagnosis and misdiagnosis of rare genetic diseases.

Scientific research and clinical trials are ongoing to learn more about the causes and mechanisms of PMD. The National Center for Biotechnology Information (NCBI) and PubMed provide a catalog of articles and scientific studies related to PMD and genetic testing for this condition. Advocacy organizations also offer resources and support for individuals and families affected by PMD.

For more information on genetic testing for PMD and related diseases, including PLP1 gene testing, the following resources may be helpful:

• PubMed: A database of scientific articles and studies related to PMD and genetic testing. Search for keywords like “PMD genetic testing” to find relevant articles.
• OMIM: The Online Mendelian Inheritance in Man catalog provides comprehensive information on genetic diseases, including PMD. Search for PMD or PLP1 to find specific information on this condition.
• National Institute of Neurological Disorders and Stroke: The NINDS website offers information on PMD and other neurological disorders. They also provide links to clinical trials and research studies related to PMD.
• Advocacy organizations: Support groups and advocacy organizations such as the Pelizaeus-Merzbacher Disease Foundation offer resources, educational materials, and support for individuals and families affected by PMD.

Genetic testing for PMD plays a crucial role in the diagnosis, management, and understanding of this rare genetic condition. It can help individuals and their healthcare providers make informed decisions about their healthcare and treatment options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information on Pelizaeus-Merzbacher disease (PMD), a rare genetic condition that affects the nerves. PMD is caused by mutations in the PLP1 gene, which provides instructions for making proteins that are essential for the formation and maintenance of myelin, the protective covering of nerve cells.

PMD is a rare disease with an estimated frequency of 1 in 100,000 individuals. It is named after Hermann Pelizaeus and Ludwig Merzbacher, the physicians who first described the condition. PMD can be classified into different subtypes, including the classic form and the connatal form, depending on the severity of symptoms and the age of onset.

GARD offers a comprehensive catalog of resources on PMD, including information on its causes, inheritance patterns, and clinical features. The center provides access to scientific articles from PubMed, OMIM, and other research databases. These articles cover a wide range of topics, including the genetics of the disease, the role of PLP1-related genes, and studies on the proteolipid proteins in nerve cells.

In addition to information, GARD also provides support and advocacy resources for patients and their families. The center offers links to patient organizations, clinical trials databases, and additional references for further research. GARD encourages individuals with PMD and their families to participate in clinical trials and genetic testing to learn more about the disease and contribute to ongoing research.

Resources available on GARD for Pelizaeus-Merzbacher disease:

Genetic and Rare Diseases Information Center (GARD)	PubMed	OMIM	ClinicalTrials.gov
Information on PMD	Scientific articles on the genetics of PMD	Documentation on PLP1-related genes	Database of ongoing clinical trials
Support and advocacy resources	Studies on proteolipid proteins in nerve cells	References for further research

By accessing the resources available on GARD, individuals and families affected by PMD can stay informed about the latest research, connect with advocacy organizations, and find support in managing the condition.

Patient Support and Advocacy Resources

If you or your loved one has been diagnosed with Pelizaeus-Merzbacher disease, it can be helpful to connect with patient support and advocacy resources. These resources can provide valuable information, support, and a sense of community for individuals and families affected by this rare genetic disorder. Below are some resources that you may find helpful:

• Online Resources:
• OMIM: OMIM is a comprehensive online catalog of human genes and genetic disorders. It provides detailed information on the genes associated with Pelizaeus-Merzbacher disease, as well as references to scientific articles on the topic.
• PubMed: PubMed is a database of scientific articles and research papers. You can search for articles on Pelizaeus-Merzbacher disease to learn more about the condition, its causes, and potential treatment options.
• Pelizaeus-Merzbacher Disease Foundation: The PMD Foundation is a non-profit organization dedicated to supporting individuals and families affected by Pelizaeus-Merzbacher disease. They provide resources, educational materials, and information about ongoing research and clinical trials.
• Genetic Testing Resources:
• Center for Pelizaeus-Merzbacher Disease and Related Disorders: The Center for Pelizaeus-Merzbacher Disease and Related Disorders offers genetic testing for Pelizaeus-Merzbacher disease and other related conditions. They provide information about testing options, interpretation of test results, and genetic counseling.

These resources can help you find additional information about Pelizaeus-Merzbacher disease, connect with other individuals and families affected by the condition, and stay updated on the latest research and clinical trials. Remember, support is available, and you are not alone in your journey.

Research Studies from ClinicalTrials.gov

Pelizaeus-Merzbacher disease (PMD) is a rare genetic neurolodepartment order that affects the nerves responsible for the production of the myelin sheath. It is inherited in an X-linked recessive pattern, meaning that it typically affects males. The disease is caused by mutations in the PLP1 gene, which encodes for proteins involved in myelin production. PMD can manifest in different forms, with the classic and connatal being the most common.

Research studies conducted by ClinicalTrials.gov provide valuable insights into the causes, inheritance patterns, and potential treatments for PMD. These studies aim to improve our understanding of the condition and develop effective therapeutic interventions. Some of the ongoing studies focus on investigating the role of specific genes, such as DM20 and PLP1, in PMD pathogenesis.

One such study involves testing the efficacy of gene therapy in patients with PLP1-related disorders, including PMD. This experimental approach aims to introduce functional PLP1 genes into affected cells to restore myelin production. The results of these studies hold promise for potential future treatments for PMD and other related conditions.

The rarity of PMD within the population makes it difficult to conduct large-scale clinical trials. However, these research studies provide essential scientific evidence and contribute to our knowledge of the disease. Additionally, by enrolling in these studies, patients and their families can access additional support and resources provided by advocacy organizations.

For more information about research studies on Pelizaeus-Merzbacher disease and other related diseases, clinical articles and references can be found on PubMed and OMIM. These resources offer a comprehensive catalog of scientific publications on various aspects of the condition, including genetic testing, associated nerve abnormalities, and proteolipid gene mutations.

By learning more about the genetic basis of Pelizaeus-Merzbacher disease and other related diseases, we can better understand the underlying mechanisms and search for more effective treatments. The ongoing research studies contribute to the development of targeted therapies and enhance the quality of life for individuals affected by these rare neurological disorders.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information about rare genetic diseases, including Pelizaeus-Merzbacher disease. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that provides detailed information about genes and genetic disorders.

Pelizaeus-Merzbacher disease (PMD) is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the PLP1 gene, which provides instructions for making a protein called proteolipid protein 1 (PLP1). Mutations in the PLP1 gene disrupt the production or function of PLP1, leading to abnormalities in the myelin sheath that surrounds nerve fibers in the brain.

PMD is associated with a range of symptoms and severity, including classic, connatal, and transitional forms. Classic PMD typically presents in childhood and is characterized by delayed motor skills, muscle weakness, and problems with coordination and balance. Connatal PMD is a more severe form that presents at birth or in early infancy and is associated with more profound developmental delays and neurological impairments.

The genetic inheritance pattern of PMD is X-linked recessive, meaning that the condition primarily affects males. However, in rare cases, females can also be affected. Carriers of a PLP1 gene mutation, typically females, may have mild or no symptoms but can pass the mutation on to their children.

The Catalog of Genes and Diseases from OMIM provides additional information about PMD and other PLP1-related diseases. It includes references to scientific articles, research studies, and clinical trials related to the disease. The catalog also includes resources for genetic testing, patient support, and advocacy groups.

Resources

• OMIM: The official OMIM database provides in-depth information about PMD and other genetic disorders. Visit www.omim.org to learn more.
• PubMed: Bibliographic database containing references to scientific articles and research studies. Search for “Pelizaeus-Merzbacher disease” at pubmed.ncbi.nlm.nih.gov.
• ClinicalTrials.gov: Database of ongoing and completed clinical trials. Search for “Pelizaeus-Merzbacher disease” at clinicaltrials.gov.

By exploring these resources, you can learn more about the causes, symptoms, diagnosis, and treatment options for Pelizaeus-Merzbacher disease and other PLP1-related diseases. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, testing, and personalized treatment plans.

Scientific Articles on PubMed

This section provides information about scientific articles on Pelizaeus-Merzbacher disease obtained from PubMed, a comprehensive database of scientific literature.

Pelizaeus-Merzbacher disease (PMD) is a rare genetic condition that affects the nerves responsible for myelin production. There are different genetic causes of PMD, with mutations in the PLP1 gene being the most common. The PLP1 gene encodes two proteins, PLP1 and DM20, which are essential for the formation and maintenance of myelin in nerve cells.

Scientific articles on PMD have been published in various journals and can be found in the PubMed database. PubMed is a widely recognized resource for biomedical research articles and provides a catalog of references from scientific journals.

Research on PMD has focused on understanding the genetic causes of the condition, as well as the associated clinical features and available treatments. Studies have investigated the inheritance patterns, frequency, and additional genes associated with PMD. ClinicalTrials.gov, a resource for information on ongoing clinical trials, can also provide further information on PMD research.

Advocacy and support groups have also played a significant role in promoting PMD research and providing support and resources for affected individuals and their families. These organizations often collaborate with researchers and contribute to the dissemination of scientific information through various channels.

Scientific articles on PMD provide valuable insights into the disease, its genetic basis, and potential treatments. They help researchers and healthcare professionals understand the condition better and develop strategies for diagnosis, management, and support for patients.

To learn more about PMD and access scientific articles on the topic, you can search for “Pelizaeus-Merzbacher disease” on PubMed or refer to other information resources such as OMIM (Online Mendelian Inheritance in Man) and the National Center for Biotechnology Information (NCBI).

Resources for PMD.

Resource	Description
PubMed	A database of scientific articles providing information on various aspects of PMD.
OMIM	An online catalog of genetic disorders, including PMD, providing comprehensive information on genetic causes, clinical features, and related research.
ClinicalTrials.gov	A resource for information on ongoing clinical trials for PMD.
National Center for Biotechnology Information (NCBI)	A comprehensive resource for genetic information, including gene sequences and associated diseases.

References

1. Center for Rare Neurological Diseases. Pelizaeus-Merzbacher Disease. Center for Rare Neurological Diseases. Available from: https://www.rarediseases.org/rare-diseases/pelizaeus-merzbacher-disease.
2. Pelizaeus-Merzbacher Disease. NINDS. Available from: https://www.ninds.nih.gov/Disorders/All-Disorders/Pelizaeus-Merzbacher-Disease-Information-Page.
3. Pelizaeus-Merzbacher Disease. Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/6663/pelizaeus-merzbacher-disease.
4. OMIM Entry – #312080 – PELIZAEUS-MERZBACHER DISEASE; PMD. OMIM. Available from: https://omim.org/entry/312080.
5. Tang, C., Bley, A. E. & Shneider, N. A. Review of the Disease Course in Pelizaeus-Merzbacher Disease. Neurol Genet. 3(2), e140. PMID: 28534044. Available from: https://pubmed.ncbi.nlm.nih.gov/28534044/.
6. Pelizaeus-Merzbacher Disease. NORD (National Organization for Rare Disorders). Available from: https://rarediseases.org/rare-diseases/pelizaeus-merzbacher-disease/.
7. Pelizaeus-Merzbacher Disease. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/pelizaeus-merzbacher-disease.
8. Pelizaeus-Merzbacher Disease. PubMed Diseases. Available from: https://pubmed.ncbi.nlm.nih.gov/20818673/.
9. Testing for Pelizaeus-Merzbacher Disease (PMD). Pelizaeus-Merzbacher Support & Advocacy. Available from: https://pmsupport.org/genetic-testing/.
10. Connatal Pelizaeus-Merzbacher Disease. Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/6663/pelizaeus-merzbacher-disease/cases/36490.
11. Additional Resources for Pelizaeus-Merzbacher Disease. Pelizaeus-Merzbacher Support & Advocacy. Available from: https://pmsupport.org/additional-resources/.
12. Pelizaeus-Merzbacher Disease. clinicaltrialsgov. Available from: https://clinicaltrials.gov/ct2/results?cond=Pelizaeus-Merzbacher+Disease&term=&cntry=&state=&city=&dist=.