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What is Sialidosis?
Sialidosis is a rare genetic disorder caused by a deficiency of the NEU1 enzyme, leading to the buildup of toxic substances in cells. It has two types: Type 1 (milder, late-onset), which affects movement and vision, and Type 2 (severe, early-onset), which includes developmental delays and organ involvement. There is currently no cure, but research is ongoing.
Symptoms of Sialidosis
Sialidosis is a genetic disorder that is categorised into two broad types, often linked to the age of symptom onset. In reality, it is a continuum of symptoms ranging from mild to severe.
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Sialidosis Type 1 (Milder, Late-Onset)
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Progressive vision loss (cherry-red spots in the eyes)
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Myoclonus (sudden, involuntary muscle jerks)
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Ataxia (balance and coordination issues)
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Seizures
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Muscle weakness
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Difficulty speaking (dysarthria)​
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Sialidosis Type 2 (Severe, Early-Onset)
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Coarse facial features
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Enlarged liver and spleen (hepatosplenomegaly)
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Skeletal abnormalities (dysostosis multiplex)
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Severe developmental delays
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Hydrocephalus (fluid buildup in the brain)
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Cherry-red spots in the eyes
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Difficulty feeding and failure to thrive
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Progressive neurological decline
How is Sialidosis Diagnosed?
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Clinical Examination – A doctor will assess symptoms like vision problems, muscle jerks (myoclonus), and developmental delays.
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Eye Exam – A retinal exam may reveal cherry-red spots, a key sign of Sialidosis.
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Enzyme Activity Test – A blood or skin sample is tested for NEU1 enzyme deficiency, which confirms the diagnosis.
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Genetic Testing – DNA testing identifies mutations in the NEU1 gene, confirming the specific type of Sialidosis.
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MRI & CT Scans – Brain imaging may show atrophy or other neurological changes linked to the disease.
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Urine or Blood Tests – May detect abnormal oligosaccharides (sugar molecules), which can indicate Sialidosis.
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Early diagnosis is crucial for symptom management and potential future treatments.
