Overview
Sialidosis, also known as mucolipidosis type I or neuraminidase deficiency, is a rare inherited metabolic disease that belongs to a group of conditions called lysosomal storage disorders. It is caused by a deficiency of the enzyme neuraminidase 1 (also called sialidase), which is needed to break down certain sugar-containing molecules in the body's cells. When this enzyme does not work properly, these molecules build up inside cells and cause damage to many organs and tissues. There are two main types of sialidosis. Type I, sometimes called the "cherry-red spot myoclonus syndrome," typically appears in the teenage or young adult years. Its hallmark features include a cherry-red spot visible in the back of the eye, sudden involuntary muscle jerks (myoclonus), difficulty walking, and progressive vision problems. Type II is more severe and begins earlier in life, often in infancy or childhood. It can cause coarse facial features, skeletal abnormalities, intellectual disability, enlarged liver and spleen, and in the most severe cases, hydrops fetalis (severe fluid buildup before birth). Currently, there is no cure for sialidosis. Treatment focuses on managing symptoms and improving quality of life. Medications may be used to help control myoclonus and seizures. Physical therapy, occupational therapy, and supportive care from a team of specialists are important parts of ongoing management. Research into potential therapies, including enzyme replacement and gene therapy, is ongoing but no disease-modifying treatments are yet available.
Key symptoms:
Cherry-red spot in the eyeSudden involuntary muscle jerks (myoclonus)Difficulty walking and balance problemsProgressive vision lossSeizuresCoarse facial features (in severe form)Enlarged liver and spleenSkeletal abnormalities and bone changesIntellectual disability (in severe form)Short statureHearing lossDifficulty speakingSwelling of the body before birth (hydrops fetalis, in severe form)Muscle weakness
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Sialidosis.
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Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Sialidosis.
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Caregiver Resources
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Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which type of sialidosis does my child or I have, and what does that mean for the expected course of the disease?,What medications can help control the myoclonus and seizures, and what are their side effects?,How often should we have eye exams and other monitoring tests?,Are there any clinical trials or experimental treatments we should know about?,What therapies (physical, occupational, speech) would be most helpful right now?,Should other family members be tested to see if they are carriers?,What resources or support groups are available for families affected by sialidosis?
Common questions about Sialidosis
What is Sialidosis?
Sialidosis, also known as mucolipidosis type I or neuraminidase deficiency, is a rare inherited metabolic disease that belongs to a group of conditions called lysosomal storage disorders. It is caused by a deficiency of the enzyme neuraminidase 1 (also called sialidase), which is needed to break down certain sugar-containing molecules in the body's cells. When this enzyme does not work properly, these molecules build up inside cells and cause damage to many organs and tissues. There are two main types of sialidosis. Type I, sometimes called the "cherry-red spot myoclonus syndrome," typically
How is Sialidosis inherited?
Sialidosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Sialidosis?
7 specialists and care centers treating Sialidosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.