Troyer Syndrome is a genetic disorder that causes muscle weakness, paraplegia, developmental delays, exaggerated reflexes, and leg muscle spasticity. The condition is autosomal recessive, and occurs when the SPG20 gene has a mutation. This gene produces the spartin protein, which may be involved in material transport, endocytosis, or protein elimination. Spartin is found in the nervous system as well as other body tissues, but its exact function and the effect of the mutation on the protein is still being researched. Troyer Syndrome is considered a degenerative disease, and there are no cures or specific treatments at this time. Physical therapy is often encouraged to help improve muscle strength, and some individuals may require devices to aid them in walking. Individuals with Troyer Syndrome often begin expressing symptoms in early childhood, and the symptoms become progressively worse over time. Troyer Syndrome does not, however, shorten an individual's life span.
Troyer Syndrome Bioinformatics Tool
Laverne is a handy bioinformatics tool to help facilitate scientific exploration of related genes, diseases and pathways based on co-citations. Explore more on Troyer Syndrome below!
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We have 940 products for the study of Troyer Syndrome that can be applied to Western Blot, Chromatin Immunoprecipitation, Immunocytochemistry/Immunofluorescence, Flow Cytometry, Immunohistochemistry from our catalog of antibodies and ELISA kits.