Disease Information for Sialidosis/Cherry Red Spot Myoclonus

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Clinical Manifestations
Signs & Symptoms
Adolescent
Ataxia
Babinski's upgoing toes/bilateral
Mental Deficiency Child
Mental Slowing Deteriation
Mental/motor retardation in children/signs
Motor slowing
Myoclonus/Myoclonic jerks on exam
Myoclonus/seizure triggered by stimuli/touch/sound
Neurological symptoms/signs
Polymyoclonus
Psychomotor regression/infant/child
Regressing neuromotor/skills child/signs
Seizures
Seizures Newborn
Seizures/Children/recurrent
Staggering Gait
Psychomotor retardation
Coarsened facial features
Cherry red spot/retinal sign
Decreasing visual acuity
Vision Loss
Clinical Presentation & Variations
Presentation/Progressive dementia Child Infant
Presents/Myoclonus Epilepsy Mental Decline <20
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Limited life expectancy
Course/Progressive/slowly chronic illness
Onset/Second decade
Prognosis/Lives to age 40 years
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Skeletal malformations
Sex & Age Groups
Population/Adolescent
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Old child
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Enzyme Assay plasma/tissue/fibroblast abnormal
Lymphocyte lipid vacuoles/smear (Lab)
Vacuolated lymphocytes/Lab
Diagnostic Test Results
Pathology
BX/Skin biopsy/Abnormal
BX/Skin fibroblasts enzyme assay abnormal
PATH/Tissue biopsy/Enzyme assay abnormal
PATH/Kupfer cells liver/vacuoles cytoplasm
PATH/Schwann cells cytoplasmic vacuoles
X-RAY
Xray/Dysostosis multiplex findings
Associated Diseases & Rule outs
Rule Outs
Ataxia-telangiectasia
Associated Disease & Complications
Blindness
Blindness in Children
Convulsions (grand mal)
Developmental neurologic degeneration/child
Dysostosis multiplex
Gaucher's disease
Mental retardation
Neurodevelopmental disorders
Sialidosis
Skeletal dysplasia
Skeletal/bone malformations
Visual acuity loss
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Neurologic (category)
CLASS/Multisystem/organ involvement/pathology (ex)
Pathophysiology
Pathophysiology/Adult variant disease milder
Pathophysiology/Gene locus 6p21.3
Pathophysiology/Gene locus Chromosome 6
Pathophysiology/Gene locus Chromosome 6p
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Lysosome storage disorder (ex)
Pathophysiology/Lysozyme storage disease
Pathophysiology/Neuramindase deficiency
Pathophysiology/Sialic acid oligosaccharide accumulation
Pathophysiology/Subset juvenile form/variant occurs
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Ceroid Lipofuscinoses (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Variant expressions/Subsets (ex)
Synonyms
Synonym
Sialidosis Cherry Red Spot Myoclonus, Early Onset Ataxia/Children, Synonym/Alpha-Neuraminidase Deficiency, Synonym/Cherry Red Spot Myoclonus disease/CRSM, Synonym/Cherry red spot myoclonus syndrome, Synonym/CRSM, Synonym/Glycoprotein neuraminidase deficiency, Synonym/Lipomucopolysaccharidosis type I, Synonym/ML I, Synonym/Mucolipidosis I/Sialidosis, Synonym/Sialidase deficiency, Synonym/Sialidosis Type I (Juvenile)/Variant, Synonym/Sialidosis Type II (Infantile)/Variant
Definition

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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External Links Related to Sialidosis/Cherry Red Spot Myoclonus
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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