Living with Sialidosis type 1
The milder form of an inherited condition that starts in the teens or twenties, causing muscle jerks and a cherry-red spot in the eye.
Understanding Sialidosis type 1
Signs usually start in the teens or twenties. They may include sudden muscle jerks (myoclonus), cherry-red spots in the eyes and sometimes other nervous system findings. People with type 1 have some working NEU1 enzyme. GARD lists onset in childhood and the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle jerks (myoclonus)
- Cherry-red spot in the eye
- Trouble walking
- Poor coordination (ataxia)
- Clouding of the cornea
- Rapid eye movements (nystagmus)
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 brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in NEU1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The International Advocates for Glycoprotein Storage Diseases (ISMRD) may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The International Advocates for Glycoprotein Storage Diseases (ISMRD)
- 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 Cure Mucolipidosis and other patient organizations
- 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 lists changes in the NEU1 gene, which still leave some working enzyme. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: cherry red spot myoclonus syndrome; cherry-red spot-myoclonus syndrome; lipomucopolysaccharidosis; normomorphic sialidosis; normosomatic sialidosis; sialidosis type i
Patient organizations
- Cure MucolipidosisSialidosis type 1 · United States
- The International Advocates for Glycoprotein Storage Diseases (ISMRD)Sialidosis type 1 · United States
- International Society for Mannosidosis and Related DiseasesSialidosis type 1
You are more than your diagnosis
Perspectives from people navigating life with Sialidosis type 1.
Explore research for Sialidosis type 1
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- Recruiting studies from ClinicalTrials.gov
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- 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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