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Disequilibrium syndrome in Montana Hutterites
American Journal of Medical Genetics
|November 1, 1985
Summary
Disequilibrium syndrome (DES), an autosomal recessive neurological disorder, is identified in Montana Dariusleut Hutterites. This preliminary note documents affected siblings, expanding on previous findings in Alberta.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Disequilibrium syndrome (DES) is a rare autosomal recessive neurological disorder.
- Previous reports documented DES in Dariusleut Hutterites in Alberta.
Observation:
- This preliminary note details the occurrence of DES in a Dariusleut Hutterite family in Montana.
- The affected family included one brother and three sisters studied in 1981.
Findings:
- The syndrome presents as congenital hypotonia, psychomotor retardation, and gait abnormalities.
- Individuals exhibit increased deep tendon reflexes, mild to moderate intellectual disability, and short stature.
Implications:
- This expands the known geographical distribution of disequilibrium syndrome.
- Further research is needed to understand the genetic basis and clinical spectrum of DES in this population.