Troyer Syndrome is one of about 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 magnetic resonance imaging include a thinning of the tissue that connects the brain’s hemispheres and poorly developed surrounding structures. Troyer syndrome 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 in chromosome 13. The disease was first observed in Amish families. Diagnosis is usually by ruling out other disorders and specialized genetic testing.
There are no specific treatments to prevent or slow the progressive degeneration seen in Troyer Syndrome. Symptomatic therapy includes antispasmodic drugs and physical therapy to improve muscle strength and maintain range of motion in the legs. Assistive devices may be needed to help with walking.
Prognosis varies, although the disease is progressive. Some patients may have a mild form of the disease while others eventually lose the ability to walk normally. Troyer Syndrome does not shorten the normal life span.
Prepared by the National Institutes of Health
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