Living with Sialidosis type 2
The more severe form of an inherited condition, with cherry-red spots in the eyes, bone changes and developmental delay.
Understanding Sialidosis type 2
It has congenital, infantile and juvenile forms. It often begins in infancy or later in childhood, with cherry-red spots in the eyes, mildly coarse facial features, bone differences and mild thinking and learning difficulty. People have little or no working NEU1 enzyme. Onset happens at a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cherry-red spot in the eye
- Coarse facial features
- Bone changes (dysostosis multiplex)
- Enlarged liver and spleen
- Developmental delay
- Hearing loss
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 bone and joint specialists, 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 greatly reduce or remove the enzyme's activity. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: cherry red spot--myoclonus syndrome; deficiency of neuraminidase; deficiency of sialidase; dysmorphic sialidosis; dysmorphic sialidosis with renal involvement; glycoprotein neuraminidase deficiency
Patient organizations
- Cure MucolipidosisSialidosis type 2 · United States
- The International Advocates for Glycoprotein Storage Diseases (ISMRD)Sialidosis type 2 · United States
- International Society for Mannosidosis and Related DiseasesSialidosis type 2 · National Kidney Foundation
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Sialidosis type 2.
Explore research for Sialidosis type 2
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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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