Sialidosis type I

Title

Other Names:

Cherry red spot myoclonus syndrome; Myoclonus cherry red spot syndrome

Categories:

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders; Congenital and Genetic Diseases; Eye diseases; Metabolic disorders; Nervous System Diseases See More

Summary Summary

Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I is the less severe form of this condition. People with this condition typically develop signs and symptoms of sialidosis in their teens or twenties.^[1] Characteristic features may include sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings.^[2] Sialidosis type I is caused by mutations in the NEU1 gene. Individuals with sialidosis type I have mutations that result in some functional NEU1 enzyme. The condition is inherited in an autosomal recessive pattern. It does not affect intelligence or life expectancy.^[1]

Last updated: 8/13/2015

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Aminoaciduria	High urine amino acid levels Increased levels of animo acids in urine [ more ]	0003355
Ataxia		0001251
Cherry red spot of the macula		0010729
Coarse facial features	Coarse facial appearance	0000280
Corneal opacity		0007957
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Dysostosis multiplex		0000943
Gait disturbance	Abnormal gait Abnormal walk Impaired gait [ more ]	0001288
Hyperkeratosis		0000962
Increased urinary O-linked sialopeptides		0003461
Myoclonus		0001336
Neurological speech impairment	Speech disorder Speech impairment Speech impediment [ more ]	0002167
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Pectus carinatum	Pigeon chest	0000768
Progressive visual loss	Progressive loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive [ more ]	0000529
Retinopathy	Noninflammatory retina disease	0000488
Scoliosis	Abnormal curving of the spine	0002650
Seizures	Seizure	0001250
Sensorineural hearing impairment		0000407
Short stature	Decreased body height Small stature [ more ]	0004322
Short thorax	Shorter than typical length between neck and abdomen	0010306
Skeletal dysplasia		0002652
Slurred speech		0001350
Splenomegaly	Increased spleen size	0001744
Thick lower lip vermilion	Increased volume of lower lip Plump lower lip Prominent lower lip [ more ]	0000179
Urinary excretion of sialylated oligosaccharides		0012061
Vascular skin abnormality		0011276
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
30%-79% of people have these symptoms
Abnormal form of the vertebral bodies		0003312
Decreased nerve conduction velocity		0000762
EEG abnormality		0002353
Frontal bossing		0002007
Hernia		0100790
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Muscle weakness	Muscular weakness	0001324
Muscular hypotonia	Low or weak muscle tone	0001252
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
Tremor	Tremors	0001337
5%-29% of people have these symptoms
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Kyphosis	Hunched back Round back [ more ]	0002808
Percent of people who have these symptoms is not available through HPO
Ascites	Accumulation of fluid in the abdomen	0001541
Autosomal recessive inheritance		0000007
Bone-marrow foam cells		0004333
Cardiomegaly	Enlarged heart Increased heart size [ more ]	0001640
Cardiomyopathy	Disease of the heart muscle	0001638
Dysmetria	Lack of coordination of movement	0001310
Epiphyseal stippling	Speckled calcifications in end part of bone	0010655
Facial edema	Facial puffiness Facial swelling [ more ]	0000282
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hepatomegaly	Enlarged liver	0002240
Hydrops fetalis		0001789
Hyperreflexia	Increased reflexes	0001347
Inguinal hernia		0000023
Proteinuria	High urine protein levels Protein in urine [ more ]	0000093
Vacuolated lymphocytes		0001922

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

Do you have updated information on this disease? We want to hear from you.

Treatment Treatment

There is no specific treatment for sialidosis. Management should be multidisciplinary and directed at supportive care and symptomatic relief. Overall health maintenance should be a priority, with seizure control as necessary. Myoclonic seizures often respond poorly to treatment with anticonvulsant medications.^[3]^[4]

Last updated: 8/13/2015

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
The main differential diagnosis is galactosialidosis (see this term), which is characterized by deficiencies in both neuraminidase and beta-galactosidase. Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Canadian Society for Mucopolysaccharide and Related Diseases Inc. (Canadian MPS Society)
#218-2055 Commercial Drive
Vancouver, BC V5N OC7
Canada
Toll-free: 800-667-1846
Telephone: 604-924-5130
Fax: 604-924-5131
E-mail: info@mpssociety.ca
Website: http://www.mpssociety.ca
Hide and Seek Foundation for Lysosomal Storage Disease Research
4123 Lankershim Boulevard
6475 East Pacific Coast Highway
Suite 466
Long Beach, CA 90803
Telephone: 877-621-1122
Fax: 818-762-2502
E-mail: info@hideandseek.org
Website: http://www.hideandseek.org
National MPS Society
P.O. Box 14686
Durham, NC 27709-4686
Toll-free: 877-MPS-1001
Telephone: 919-806-0101
Fax: 919-806-2055
E-mail: info@mpssociety.org
Website: http://www.mpssociety.org
Society for Mucopolysaccharide (MPS) Diseases
MPS House Repton Place White Lion Road
Amersham Buckinghamshire
HP7 9LP
United Kingdom
Telephone: (+44) 0345 389 9901
E-mail: mps@mpssociety.co.uk
Website: http://www.mpssociety.co.uk
The International Advocates for Glycoprotein Storage Diseases (ISMRD)
3921 Country Club Drive
Lakewood, CA 90712
E-mail: info@ismrd.org
Website: http://www.ismrd.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
Genetics Home Reference (GHR) contains information on Sialidosis type I. This website is maintained by the National Library of Medicine.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Sialidosis type I. Click on the link to view a sample search on this topic.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

Other Conferences

2012 International Conference for Glycoprotein Storage Diseases, July 27, 2012 - July 30, 2012
Location: Crowne Plaza Hotel, Charleston, SC
Description: The International Society for Mannosidosis & Related Storage Diseases (ISMRD) is sponsoring the 2012 International Conference for Glycoprotein Storage Diseases. The Scientific/Family meetings will be held concurrently on July 28th and 29th. Alongside this meeting, they are hosting the extension of the Natural History Study, with clinic days on July 27th and 30th.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

What is sialidosis type I? How might this condition be treated? See answer

Have a question? Contact a GARD Information Specialist.

References References

Sialidosis. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/sialidosis. Accessed 8/13/2015.
Meikle PJ. Sialidosis. National Organization for Rare Disorders (NORD). 2010; http://rarediseases.org/rare-diseases/sialidosis/. Accessed 8/13/2015.
Roth KS. Sialidosis (Mucolipidosis I): Treatment & Medication. Medscape Reference. December 13, 2013; http://emedicine.medscape.com/article/948704-treatment. Accessed 8/13/2015.
Maire I, Froissart R. Sialidosis type 1. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=812. Accessed 8/13/2015.