Sialidosis type 1

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Sialidosis type 1

Synonyms: Cherry-red spot-myoclonus syndrome | Lipomucopolysaccharidosis | Normomorphic sialidosis

Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease and is the normosomatic form of sialidosis (see this term) 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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Sialidosis type 1?

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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

International Society for Mannosidosis and Related Diseases

ISMRD is an internationally focused not-for-profit organization whose mission is to advocate for families and patients affected by, Alpha-Mannosidosis, Aspartylglucosaminuria, Beta-Mannosidosis, Fucosidosis, Galactosialidosis, Sialidosis (Mucolipidosis I), Mucolipidosis II, II/III, III alpha/beta, Mucolipidosis III Gamma, and Schindler Disease.

MPS Society

The MPS Society supports families through difficult times and helps people living with rare diseases to live their lives to the full. Founded in 1982 and led by people directly affected by these diseases, we are the only registered charity in the UK which focusses on MPS (Mucopolysaccharide), Fabry and related conditions, a group of 27 rare, life-limiting genetic diseases.

Clinical Trials

For a list of clinical trials in this disease area, please click here.