Living with Sialidosis
An inherited condition affecting the nervous system and other organs, with two types that start at different ages.
Understanding Sialidosis
Type I is the milder form and starts in the teens or twenties. It causes walking problems, vision changes, muscle twitches (myoclonus), poor coordination and seizures. A cherry-red spot in the eye is typical, and intelligence is not affected. Type II is more severe and is divided into congenital, infantile and juvenile forms. The congenital form can begin before birth with fluid buildup, an enlarged liver and spleen, bone changes and coarse facial features.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, symptoms include:
- Trouble walking
- Vision loss or poor color vision
- Muscle twitches (myoclonus)
- Poor coordination (ataxia)
- Seizures
- Cherry-red spot seen in the eye
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with International Society for Mannosidosis and Related Diseases
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition, but it doesn't list a gene in this record. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: mucolipidosis i; mucolipidosis type i; mucolipidosis, type i
Patient organizations
You are more than your diagnosis
Perspectives from people navigating life with Sialidosis.
Explore research for Sialidosis
Explore actively recruiting Sialidosis studies with HealthSpark.
Find actively recruiting studies for Sialidosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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