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What is Troyer syndrome (TS)?

Troyer syndrome (TS) is one of the 30 neurological disorders known as the hereditary spastic paraplegias. It is characterized by progressive muscle weakness and spasticity in the legs. Additional symptoms include leg contractures, difficulty walking, speech disorders, drooling, atrophy of the hand muscles, mild developmental delays, fluctuating emotions, and short stature. Onset is in early childhood. Brain abnormalities seen on MRI scans include a thinning of the tissue that connects the brain's hemispheres and poorly developed surrounding structures. TS is an autosomal recessive disorder (meaning that both parents must carry and pass on the defective gene that produces the illness) that results from a mutation in the Spartan spastic paraplegia gene (SPGP20) located on chromosome 13. The disease was first observed in Amish families. Diagnosis is usually by ruling out other disorders and specialized genetic testing.

This answer is based on source information from the National Institute of Neurological Disorders and Stroke.

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