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Sialidosis type 1

MONDO:0019346

Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.

Also known as: Normomorphic sialidosis, cherry-red spot-myoclonus syndrome, lipomucopolysaccharidosis, normosomatic sialidosis, cherry red spot myoclonus syndrome, myoclonus cherry red spot syndrome, sialidosis type I

2 clinical trials for this condition and its sub-types, 2 tagged with Sialidosis type 1 itself.

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Part of

↑ Familial mucolipidosis (5) ↑ Sialidosis (2)

Including sub-types (2) Tagged with Sialidosis type 1 (2)

Trials to join now! 1 Terminated 1

Scientists track rare brain diseases to unlock clues for future treatments

Knowledge-focused Recruiting now

This study follows people with rare genetic disorders that cause harmful substances to build up in the body, leading to brain damage. Researchers will monitor up to 200 participants over time using exams, surveys, and lab tests. The goal is to better understand how these diseases…

Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

Last updated Sep 18, 2026 00:00 UTC

Sialidosis type 1

Where it sits in the disease tree

Scientists track rare brain diseases to unlock clues for future treatments