National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Sialidosis type I


Other Names:
Cherry red spot myoclonus syndrome; Myoclonus cherry red spot syndrome
Categories:
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

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
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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 0002650
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 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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Last updated: 7/1/2020
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

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

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 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.

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

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

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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

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.

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


  1. Sialidosis. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/sialidosis. Accessed 8/13/2015.
  2. Meikle PJ. Sialidosis. National Organization for Rare Disorders (NORD). 2010; http://rarediseases.org/rare-diseases/sialidosis/. Accessed 8/13/2015.
  3. Roth KS. Sialidosis (Mucolipidosis I): Treatment & Medication. Medscape Reference. December 13, 2013; http://emedicine.medscape.com/article/948704-treatment. Accessed 8/13/2015.
  4. 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.