Troyer syndrome
Troyer Syndrome
Troyer syndrome (/ˈtrɔɪər sɪnˈdroʊm/), also known as SPG20, is a rare autosomal recessive hereditary spastic paraplegia that is characterized by progressive muscle weakness and spasticity. The syndrome is named after the Amish family in which it was first identified.
Etymology
The term "Troyer syndrome" is derived from the surname of the Amish family in which the condition was first identified. The term "syndrome" is derived from the Greek word "σύνδρομον" (sýndromon), meaning "concurrence of symptoms" or "running together".
Symptoms
The primary symptoms of Troyer syndrome include spasticity, muscle weakness, and dysarthria. Other symptoms may include intellectual disability, dysphagia, short stature, and skeletal abnormalities.
Causes
Troyer syndrome is caused by mutations in the SPG20 gene. This gene provides instructions for making a protein called spartin, which is involved in various cellular functions.
Diagnosis
Diagnosis of Troyer syndrome is based on clinical examination, family history, and genetic testing to identify mutations in the SPG20 gene.
Treatment
There is currently no cure for Troyer syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and medications to manage spasticity and other symptoms.
See also
References
External links
- Medical encyclopedia article on Troyer syndrome
- Wikipedia's article - Troyer syndrome
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