Sialidosis

Common Name(s)

Sialidosis

Sialidosis is a rare genetic condition caused by changes (mutations) in the NEU1 gene which cause not enough NEU1 enzyme to be made. The NEU1 enzyme helps the cells in our body breakdown a particular type of sugar. Without the enzyme, this sugar builds up in nerve cells and bone marrow. There are two main types of sialidosis: Type 1 is a milder form with symptoms usually developing in the teen years and Type 2 is more severe and is broken down into three subtypes: congenital (symptoms develop in the fetus before birth), infantile (symptoms develop soon after birth) or juvenile (symptoms develop in late childhood).

Timing and severity of the symptoms will vary with type, but in general many organs and tissues are affected. Common symptoms include red spots in the eyes (cherry red spots), swelling throughout body, vision problems, leg tremors, involuntary muscle contractions, low muscle tone, and seizures. People with sialidosis may also have “coarse” facial features, including a flat nose, puffy eyelids, large gums, and a large tongue. Sialidosis is progressive, meaning it gets worse over time.

Type 1 does not affect life expectancy or intelligence, but a wheelchair may be needed in adulthood. Babies with congenital type 2 usually die before or shortly after birth. Children with infantile type 2 usually develop intellectual disabilities and hearing loss and are shorter than average children. Sadly they usually do not live beyond their early teen years. Juvenile type 2 may affect intellectual abilities and life expectancy depends on the severity of symptoms.

The diagnosis is confirmed by genetic testing. Although there is no cure, there are treatments which may help manage the symptoms. Research is ongoing, so talk to your child’s doctor about current treatment options. Genetic counselors and support groups are also good resources of information and can help connect you with other families affected by the sialidosis.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sialidosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Sialidosis" returned 27 free, full-text research articles on human participants. First 3 results:

Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.
 

Author(s): Prajnya Ranganath, Vishakha Sharma, Sumita Danda, Madhusudan R Nandineni, Ashwin B Dalal

Journal: Indian J. Med. Res.. 2012 Dec;136(6):1048-50.

 

Last Updated: 8 Feb 2013

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Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene.
 

Author(s): Yoshiki Sekijima, Katsuya Nakamura, Dai Kishida, Aya Narita, Kaori Adachi, Kosaku Ohno, Eiji Nanba, Shu-Ichi Ikeda

Journal: Intern. Med.. 2013 ;52(1):119-24.

 

The case of a Japanese sialidosis type I patient with a novel NEU1 gene mutation is described. The patient developed an unsteady gait at age 14 and was referred to our hospital at age 16. On admission, subnormal intelligence, dysarthria, myoclonus, intentional tremors, limb and gait ...

Last Updated: 7 Jan 2013

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Spectral optical coherence tomography in a patient with type I sialidosis.
 

Author(s): Zofia Michalewska, Agata Gajos, Janusz Michalewski, Jerzy Nawrocki, Alexey V Pshezhetsky, Andrzej Bogucki

Journal: Med. Sci. Monit.. 2011 Oct;17(10):CS129-31.

 

The aim of our study was to analyze spectral optical coherence tomography (SD-OCT) findings in a patient with clinical signs of sialidosis.

Last Updated: 30 Sep 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Sialidosis" returned 1 free, full-text review articles on human participants. First 3 results:

Sialidosis: a review of human neuraminidase deficiency.
 

Author(s): J A Lowden, J S O'Brien

Journal: Am. J. Hum. Genet.. 1979 Jan;31(1):1-18.

 

Last Updated: 29 Jun 1979

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Longitudinal Studies of the Glycoproteinoses
 

Status: Recruiting

Condition Summary: Aspartylglucosaminuria; Fucosidosis; Galactosialidosis; Alpha Mannosidosis; Beta Mannosidosis; Mucolipidosis II; Mucolipidosis III; Schindler Disease; Sialidosis

 

Last Updated: 9 Sep 2014

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Biomarker for Mucolipidosis Disorder Type I, II, III or IV
 

Status: Recruiting

Condition Summary: Mucolipidosis Type I; Mucolipidosis Type II; Mucolipidosis Type III; Mucolipidosis Type IV; Mucolipidosis

 

Last Updated: 13 Jan 2016

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