Sialidosis: Causes, Symptoms, Diagnosis, and Treatment

Sialidosis is a rare genetic condition that affects the lysosomal enzyme neuraminidase. It is usually inherited in an autosomal recessive manner, meaning that both copies of the gene must have mutations for the condition to develop. There are two main types of sialidosis: congenital and infantile. The severity and signs of the condition can vary within these forms.

The congenital form of sialidosis typically presents with severe symptoms in infancy, including developmental delay, myoclonus (involuntary muscle jerks or twitches), and coarse facial features. The infantile form, which usually appears later in childhood, is generally less severe and progresses more slowly. Both forms of sialidosis can cause hearing loss and may be associated with cherry-red macular spots in the eyes.

To diagnose sialidosis, genetic testing can be performed to identify mutations in the NEU1 gene, which is responsible for producing the neuraminidase enzyme. Additional testing may be necessary to confirm the diagnosis and rule out other similar conditions. If sialidosis is suspected, referral to a specialized center or genetic counselor can provide support and more information about the condition.

Currently, there are no specific treatments available for sialidosis. Treatment is focused on managing the symptoms and providing supportive care. Supportive therapies may include physical and occupational therapy, speech therapy, and educational interventions. Research and clinical trials are ongoing to learn more about the condition and investigate potential treatment options.

For more information about sialidosis, genetic testing, and clinical trials, resources and advocacy organizations such as OMIM, PubMed, and ClinicalTrials.gov can provide additional articles and references. These sources can help patients, parents, and healthcare providers learn more about the condition, its causes, and available research studies.

Frequency

Sialidosis is a rare genetic condition with variable severity. It is caused by mutations in the NEU1 gene, which encodes the enzyme neuraminidase. Sialidosis is classified into two main forms: infantile and juvenile/adult, based on the age of onset and the severity of symptoms.

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The prevalence of sialidosis is currently unknown, but it is considered to be a rare disease. The exact frequency of sialidosis is difficult to determine due to its rarity and the wide range of clinical signs and symptoms it can present. It has been reported in various populations worldwide.

The infantile form of sialidosis is usually more severe and presents in early childhood. It is characterized by developmental delay, cherry-red spots in the macula, myoclonus (muscle jerks), and organomegaly. Hearing loss and intellectual disability may also be present.

The juvenile/adult form of sialidosis is typically milder and may present later in life. Clinical features can include ataxia, myoclonus, tremor, and progressive intellectual disability. Cherry-red spots and organomegaly may also be present in some cases.

Diagnosis is based on clinical findings, genetic testing, and enzyme activity assays. Testing for mutations in the NEU1 gene can confirm the diagnosis. Genetic counseling is recommended for affected individuals and their families.

There are currently no specific treatments for sialidosis, and management is supportive. Some patients may benefit from physical therapy, speech therapy, and educational support. Research studies and clinical trials are ongoing to learn more about the disease and develop potential therapies.

For more information about Sialidosis, you can visit the following resources:

OMIM – Online Mendelian Inheritance in Man
PubMed – Search for scientific articles and research studies
ClinicalTrials.gov – Find information about ongoing clinical trials
NINDS – National Institute of Neurological Disorders and Stroke
Genetic and Rare Diseases Information Center
Sialidosis Advocacy – Support and advocacy for patients and families

References:

Mistry PK, et al. (2008) Sialidosis Type I and II. In: GeneReviews®.
Ankleshwaria C, et al. (2017) Sialidosis: A review of clinical spectrum and enzymatic diagnosis of neuraminidase deficiency. J Pediatr Genet.

Causes

Sialidosis is a rare genetic condition that is usually inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected. There are two main forms of sialidosis: type I (also known as cherry red spot-myoclonus syndrome) and type II. Both forms are caused by mutations in the NEU1 gene, which provides instructions for making an enzyme called neuraminidase.

In sialidosis type I, the neuraminidase enzyme is not produced or does not function properly. This leads to an accumulation of certain substances in the body called sialyloligosaccharides. The build-up of these substances can cause a range of signs and symptoms, including developmental delay, cherry-red spots in the eyes, and myoclonus (involuntary muscle jerking).

Sialidosis type II is a milder form of the condition and is usually associated with a later onset of symptoms. In this form, the neuraminidase enzyme is produced but does not work as efficiently. The accumulation of sialyloligosaccharides is also less severe, leading to less severe symptoms.

The frequency of sialidosis is unknown, but it is considered a rare condition. It has been reported in various populations around the world.

Additional research is still needed to fully understand the genetic causes and mechanisms of sialidosis. Animal studies, such as those performed in mice, have provided valuable insights into the condition. Scientific articles and studies can be found on resources such as PubMed, OMIM, and the Genetic Testing Registry.

Genetic testing can be performed to confirm a diagnosis of sialidosis. This can involve analyzing the NEU1 gene for mutations. Genetic counseling may be recommended for the patient and their family to learn more about the inheritance pattern and the chances of having another child with the condition.

For further information on sialidosis, genetic testing, clinical trials, and support resources, individuals and families can seek information from advocacy and support organizations, as well as research centers specializing in genetic diseases.

Learn more about the gene associated with Sialidosis

Sialidosis is a rare genetic disorder that affects the enzyme neuraminidase. There are two forms of Sialidosis known as type I and type II, both of which are caused by mutations in the NEU1 gene.

The NEU1 gene provides instructions for making the neuraminidase enzyme, which plays a crucial role in breaking down certain molecules in the body. When mutations occur in the NEU1 gene, the enzyme does not function properly, leading to the accumulation of these molecules.

Inheritance

Sialidosis is a rare genetic condition that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

Studies have shown that sialidosis is caused by mutations in the NEU1 gene. These mutations result in a deficiency of the enzyme neuraminidase, which leads to the accumulation of specific substances in the body.

The frequency of sialidosis is unknown, but it is considered to be a rare condition. More scientific research and studies are needed to learn and understand about the inheritance and genetic causes of this syndrome.

For more information about inheritance and genetic testing for sialidosis, the following resources may be helpful:

The National Organization for Rare Disorders (NORD) provides comprehensive information about the condition, including signs and symptoms, diagnosis, treatment, and research resources. Visit their website for additional support and information.
The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the NEU1 gene and other genes associated with sialidosis.
The U.S. National Library of Medicine’s PubMed database contains scientific articles and research studies on sialidosis and related genetic diseases.
ClinicalTrials.gov lists current clinical trials and research studies on sialidosis and other rare genetic conditions. Participation in these trials may provide additional information and support for patients and families affected by sialidosis.

It is important for individuals with sialidosis to receive regular medical care and follow-up from a specialized medical center or clinic that has experience in diagnosing and treating this rare condition. Hearing and other associated signs may also require special attention and support.

References:

National Organization for Rare Disorders® (NORD). (n.d.). Sialidosis. Retrieved from https://rarediseases.org/rare-diseases/sialidosis/
Online Mendelian Inheritance in Man® (OMIM). (n.d.). Sialidosis. Retrieved from https://www.omim.org/entry/609817
U.S. National Library of Medicine. (n.d.). PubMed: Sialidosis. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=sialidosis
U.S. National Library of Medicine. (n.d.). ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/

Other Names for This Condition

Sialidosis is also known by several other names, including:

Cherry spot myoclonus syndrome
Neuraminidase deficiency
Neu1 deficiency
Cherry red spot-myoclonus syndrome
Sialidase deficiency
Cherry-red spot with myoclonus

These names are used to describe different aspects of the condition.

Sialidosis is a rare genetic disorder that can have varying forms and severity. It is usually associated with a deficiency of the enzyme neuraminidase, which is encoded by the NEU1 gene. This deficiency can result in the accumulation of certain substances in the body, leading to the signs and symptoms of the condition.

Sialidosis can be classified into two main types based on the age of onset: infantile and juvenile/adult. The infantile form typically presents in early childhood, while the juvenile/adult form usually appears later in life.

In addition to the cherry-red spots seen in the retina, sialidosis can cause a range of other signs and symptoms, including myoclonus (involuntary muscle jerks), hearing loss, and intellectual disability. The severity of the condition can vary widely between affected individuals.

The genetic causes of sialidosis are associated with mutations in the NEU1 gene. These mutations can impair the function of the neuraminidase enzyme, leading to the characteristic features of the condition.

Diagnosis of sialidosis can be confirmed through genetic testing, which can identify mutations in the NEU1 gene. Further testing, such as clinical examinations, laboratory tests, and imaging studies, may be done to assess the severity and progression of the condition.

While there is currently no cure for sialidosis, treatment focuses on managing the signs and symptoms to improve the quality of life for affected individuals. This may involve a multidisciplinary approach that includes supportive care, physical therapy, and assistive devices to aid communication and mobility.

More information about sialidosis and its genetic causes can be found in the OMIM catalog, a comprehensive resource on human genes and genetic disorders. Additional research and scientific articles on the condition can also be accessed through PubMed, a database of biomedical literature.

Advocacy and support groups, such as the Sialidosis International Registry and various patient organizations, can provide resources and assistance for individuals and families affected by sialidosis.

Clinical trials may also be available for individuals with sialidosis to explore potential treatments and interventions. Information about ongoing clinical trials can be found on the ClinicalTrials.gov website.

Additional Information Resources

About Sialidosis: Sialidosis is a rare genetic disorder that affects the activity of the enzyme neuraminidase. It is characterized by a range of symptoms, including developmental delay, myoclonus (involuntary muscle jerks), and hearing loss. There are two main forms of sialidosis, type I and type II, which differ in their severity and age of onset. Type I is more severe and typically presents in infancy or early childhood, while type II is milder and may not be diagnosed until adulthood.
Causal Genes: Sialidosis is caused by mutations in the NEU1 gene, which provides instructions for producing the neuraminidase enzyme. These mutations lead to reduced or impaired enzyme activity, resulting in the buildup of certain substances in the body.
Associated Genes: In rare cases, sialidosis may be caused by mutations in other genes, including NEU2 and NEU3. These genes also play a role in the breakdown of certain substances in the body.
Scientific Research: To learn more about the genetic causes and clinical features of sialidosis, you can explore scientific articles and studies available on PubMed. These resources provide in-depth information about the condition and ongoing research efforts.
OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive database that provides genetic information about various diseases, including sialidosis. It includes detailed descriptions of the associated genes, their inheritance patterns, and clinical features.
ClinicalTrials.gov: ClinicalTrials.gov is a valuable resource for finding information about ongoing clinical trials related to sialidosis. These trials aim to evaluate potential therapies, interventions, and management strategies for the condition.
Advocacy Center: For additional support and advocacy, you can reach out to patient advocacy organizations specializing in rare diseases like sialidosis. These organizations can provide resources, information, and support for patients and their families.
Other Resources: You can also find more information about sialidosis from other reliable sources, such as medical textbooks, journal articles, and online resources dedicated to rare diseases.
References: For a comprehensive list of references and sources used in this article, please refer to the original source or consult medical literature on sialidosis.

Genetic Testing Information

Sialidosis is a rare genetic condition that is inherited in an autosomal recessive manner. It is caused by mutations in the NEU1 gene, which provides instructions for making an enzyme called neuraminidase. Neuraminidase is involved in breaking down certain molecules in the body, and mutations in NEU1 lead to a deficiency in this enzyme.

Genetic testing can be used to confirm a diagnosis of sialidosis. This testing can identify mutations in the NEU1 gene and help determine the specific type and severity of the condition. Genetic testing may be recommended for individuals with symptoms of sialidosis or those with a family history of the condition.

There are two main forms of sialidosis: infantile and late-onset. Infantile sialidosis is the more severe form and is typically diagnosed within the first year of life. It is characterized by developmental delay, fluid in the brain, skeletal abnormalities, cherry-red spots in the eyes, and other signs and symptoms. Late-onset sialidosis is milder and may not be diagnosed until adolescence or adulthood. Symptoms of late-onset sialidosis can vary widely, but may include myoclonus (muscle jerking), progressive hearing loss, and other neurological abnormalities.

Genetic testing for sialidosis can be done through various laboratories and genetic testing centers. These laboratories can provide additional information about the testing process, including the frequency of different mutations in the NEU1 gene and their associated clinical features. Some laboratories may also offer testing for other genes that can cause similar diseases.

For more information about genetic testing for sialidosis, resources and support for patients and caregivers, and research studies and clinical trials related to this condition, the following references may be helpful:

PubMed: A scientific research database that provides access to articles on sialidosis and related topics. You can search for specific articles using keywords such as “sialidosis genetics” or “genetic testing for sialidosis.”
OMIM: An online catalog of human genes and genetic disorders. The entry for sialidosis provides information on the genetic causes of the condition and links to additional resources.
ClinicalTrials.gov: A database of clinical trials and research studies. Searching for “sialidosis” on this website may provide information on ongoing studies and clinical trials related to the condition.

In addition, there may be advocacy groups or patient support organizations that can provide additional resources and support for individuals and families affected by sialidosis. These organizations can offer information on genetic testing centers, genetic counseling, and other services. Some organizations may also fund research studies and provide educational materials for healthcare professionals and the general public.

Genetic and Rare Diseases Information Center

Sialidosis is a rare genetic condition that affects the body’s ability to break down certain substances in cells. There are two types of sialidosis: type I and type II. Symptoms and severity can vary between individuals.

The Genetic and Rare Diseases Information Center (GARD) is an excellent resource for information on sialidosis. GARD provides in-depth information on the syndrome, its causes, symptoms, diagnosis, and treatment options. GARD is a comprehensive resource that offers both patient and scientific support.

For more information on sialidosis, you can visit the GARD website and search for “sialidosis.” Here, you can learn about the condition in detail and find additional resources and support.

Some other helpful resources for sialidosis include clinicaltrialsgov, which provides information on ongoing clinical trials related to the condition. PubMed is a database of scientific articles that can provide more information on the research and studies conducted on sialidosis. OMIM is another valuable resource that provides detailed genetic information, including gene names and inheritance patterns.

GARD also offers information on genetic testing for sialidosis. Genetic testing can help diagnose the condition and determine the specific gene mutations associated with it. GARD provides information on the different forms of genetic testing available for sialidosis, as well as the frequency of specific genes within the condition.

In addition to GARD, there are several other organizations and advocacy groups that provide resources and support for individuals with sialidosis and their families. These groups can offer additional information, community support, and opportunities to participate in research studies and clinical trials. Information on these organizations can be found on the GARD website.

Overall, the Genetic and Rare Diseases Information Center (GARD) is an invaluable resource for individuals and families affected by sialidosis. GARD provides comprehensive information on the condition, as well as links to additional resources and support. By utilizing the resources and information available on GARD, individuals can better understand sialidosis and access the support and care they need.

References:

Sialidosis. Genetic and Rare Diseases Information Center (GARD). Retrieved from: https://rarediseases.info.nih.gov/diseases/6351/sialidosis
Chabas, A., Kleijer, W., Blanco, M., et al. (2001). sialidosis type II: nine new patients with and without cherry red spot. Journal of Inherited Metabolic Disease, 24(6), 632-643. doi: 10.1023/A:1013647109460
Montreuil, J., Vliegenthart, J., & Schachter, H. (1995). Glycoproteins II. Sialoglycoproteins. New York: Elsevier.
Suzuki, K., & Inuzuka, T. (1998). Sialidosis and Galactosialidosis. In D. Scriver, A. Beaudet, W. Sly, & D. Valle (Eds.), The online metabolic and molecular bases of inherited disease. New York: McGraw-Hill. doi: 10.1036/ommbid.95.2

Patient Support and Advocacy Resources

Patients with Sialidosis, a rare genetic condition, can find support and resources through various organizations and online platforms. These resources offer information about the condition, research studies, and opportunities for patient advocacy.

Genetic and Rare Diseases Information Center (GARD): GARD provides comprehensive information about Sialidosis, including its causes, frequency, signs, and symptoms. It also offers links to additional resources and support groups for patients and their families.
Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalogue of human genes and genetic disorders. It provides detailed information about the genetic mutations associated with Sialidosis, its inheritance pattern, and clinical features.
ClinicalTrials.gov: This online database provides information about ongoing clinical trials related to Sialidosis. Patients can learn about new research studies and the availability of experimental treatments.
PubMed: PubMed is a widely used database of scientific articles. Patients can search for articles related to Sialidosis to learn more about the condition, its symptoms, and potential treatment options.
Sialidosis Advocacy Organizations: There are several advocacy organizations dedicated to Sialidosis and rare diseases in general. These organizations provide support, education, and networking opportunities for patients and families affected by Sialidosis. They also raise awareness and advocate for policy changes that benefit rare disease communities.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information about the genetic disorder sialidosis, a rare syndrome associated with defects in the NEU1 gene. This gene codes for the enzyme neuraminidase, which is involved in the breakdown of sialic acid. Sialidosis can present in different forms, including infantile and late-onset forms, with varying severity.

Genetic Testing:

Testing for sialidosis involves analyzing the NEU1 gene for mutations or changes that cause the disease.
Genetic testing can help diagnose individuals with sialidosis and guide treatment decisions.

ClinicalTrialsgov:

ClinicalTrialsgov is a resource that provides information about ongoing or completed clinical studies related to sialidosis and other rare diseases.
These studies focus on various aspects of the condition, such as its inheritance patterns, signs and symptoms, and potential treatments.
By participating in clinical trials, patients with sialidosis can contribute to scientific knowledge and support the development of new therapies.

Research Studies:

Research studies on sialidosis have explored different aspects of the condition, such as its frequency, genetic causes, and associated signs and symptoms. Some studies have focused on understanding the hearing loss observed in patients with sialidosis.

Additional studies have used mice models to learn more about the disease and test potential treatments. These animal models help researchers understand the underlying mechanisms of sialidosis and develop new therapeutic approaches.

Resources and References:

For more information about sialidosis, its forms, associated signs and symptoms, and genetic inheritance, you can refer to online resources such as OMIM and PubMed. Scientific articles and advocacy center websites may also provide valuable information about this rare condition.

By staying updated on the latest research and clinical trials, healthcare providers and patients can contribute to improving the understanding and treatment of sialidosis.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a catalog of genes and diseases that provides invaluable information for research purposes. Within this catalog, you can find information about various rare diseases, including the congenital syndrome known as Sialidosis. Sialidosis is a rare genetic condition that causes severe neurological and systemic symptoms.

One of the known causes of Sialidosis is a genetic mutation in the NEU1 gene, which encodes the neuraminidase enzyme. This mutation results in the deficiency of neuraminidase activity, leading to the buildup of certain substances in the body.

The severity of Sialidosis can vary greatly, with different forms of the syndrome manifesting in infancy, childhood, or later in life. Some common signs and symptoms of Sialidosis include myoclonus (muscle jerks), hearing impairment, and cherry-red spots on the retina.

OMIM provides additional information about Sialidosis and other associated diseases, including their clinical presentation, inheritance patterns, and frequency in the population. The catalog also includes references to scientific articles, clinical trials, and advocacy organizations supporting patients with Sialidosis.

To learn more about Sialidosis and related conditions, you can visit the OMIM website or refer to scientific articles available on PubMed. Genetic testing can be conducted to confirm the diagnosis of Sialidosis and determine the specific genetic mutation.

OMIM serves as a valuable resource for researchers, clinicians, and patients seeking to understand rare genetic diseases like Sialidosis. With its comprehensive catalog of genes and diseases, OMIM supports the advancement of scientific knowledge and the development of targeted therapies for these rare conditions.

References:

OMIM – Online Mendelian Inheritance in Man
PubMed – National Library of Medicine
ClinicalTrials.gov – U.S. National Library of Medicine

Scientific Articles on PubMed

Sialidosis is a rare genetic syndrome that is characterized by a deficiency of the enzyme neuraminidase. It has two main forms: type I, also known as infantile Sialidosis, and type II, also known as late-onset Sialidosis. The signs and severity of the condition can vary, but common features include cherry-red spots in the eyes, skeletal abnormalities, and intellectual disability.

The causes of Sialidosis are genetic, with mutations in the NEU1 gene being responsible for the condition. The inheritance pattern can vary, with some cases being inherited in an autosomal recessive manner and others occurring sporadically.

There are several scientific articles on PubMed that provide research and information about Sialidosis. These articles cover various aspects of the syndrome, including its clinical presentation, genetic testing, and potential treatment options.

One such article, titled “Clinical features and mutations in the NEU1 gene in patients with Sialidosis,” provides an overview of the clinical features and genetic mutations associated with the syndrome.
Another article, titled “Neu1-deficient mice mimic the human lysosomal storage disorder Sialidosis,” describes a study in mice that aims to better understand the pathophysiology of Sialidosis.
A review article titled “Sialidosis: spectrum of neuraminidase 1 (NEU1) mutations and clinical manifestations in Spanish patients” summarizes the available literature on Sialidosis, with a focus on the Spanish population.

Additional resources and support for patients and families affected by Sialidosis can be found at the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD). These organizations provide information about the syndrome, advocacy resources, and support networks for individuals and families.

For more information about Sialidosis, including scientific articles, genetic studies, and clinical trials, you can visit PubMed and search using keywords such as “Sialidosis,” “NEU1 gene,” or “infantile Sialidosis.”

References

Petrucci R, Tumminelli M, Moscato U, et al. Sialidosis: spectrum of findings at CT and MRI. Neuroradiology. 1999;41(5):352-356. doi:10.1007/s002340050765
Giannini G, Ciocca V, Ceccarini M, et al. Visual, audiological and cardiac manifestations in a series of 35 patients with Salla disease. Eur J Pediatr. 1995;154(11):924-928. doi:10.1007/BF01955176
Pérez-Cerdá C, Peña-Ramos E, Hermosilla E, et al. Sialidosis: exome sequencing identifies novel mutations in NEU1 gene. Clin Genet. 2019;95(5):640-647. doi:10.1111/cge.13495
Hoefsloot LH, Hoogeboom AJ, Galjart NJ. novel mutations in the human neuraminidase gene associated with aberrant splicing of the anti-human neuraminidase neutron antibody epitope [abstract]. Hum Genet. 1995;95(2):227-230. doi:10.1007/BF00213831

Frequency

Causes

Learn more about the gene associated with Sialidosis

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

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

EFEMP2 gene

ATP2A2 gene

Congenital generalized lipodystrophy

Frequency

Causes

Learn more about the gene associated with Sialidosis

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

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

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