Disease Information for Sialidosis/Cherry Red Spot Myoclonus

Sialidosis AKA Alpha-Neuraminidase Deficiency; Cherry Red Spot and Myoclonus Syndrome; Glycoprotein Neuraminidase, Deficiency of Lipomucopolysaccharidosis Type I ; ML I;Mucolipidosis I ; Sialidase Deficiency; [Sialidosis Type I (Juvenile) and Sialidosis Type II (Infantile)];

Sialidosis is a very rare inherited metabolic disorder characterized by a deficiency of the enzyme alpha-neuraminidase; This disorder belongs to a group of diseases known as lysosomal disorders; Lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates; The deficiency of alpha-neuraminidase that characterizes Sialidosis leads to the abnormal accumulation of certain complex carbohydrates (mucopolysaccharides) and certain fatty substances (mucolipids) in many tissues of the body; Previously known as Mucolipidosis I, Sialidosis belongs to a subgroup of lysosomal diseases known as Mucolipidoses; The symptoms of Sialidosis Type I, which typically begin during the 2nd decade of life, may include sudden involuntary muscle contractions (myoclonus), the appearance of red spots (cherry-red macules) in the eyes, and/or other neurological findings; Sialidosis Type II may begin during infancy or later; It is characterized by the same visual characteristics as Sialidosis Type I, as well as other symptoms such as mildly coarse facial features, skeletal malformations, and/or mild mental retardation; Sialidosis is inherited as an autosomal recessive genetic trait---------[NORD 2005]------------------

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