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Perry Syndrome.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2010 Sep 30 [updated 2013 May 09].



Perry syndrome is characterized by parkinsonism, hypoventilation, depression, and weight loss. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later.


The diagnosis is based on clinical findings and molecular genetic testing of DCTN1, the only gene in which mutations are known to cause Perry syndrome.


Treatment of manifestations: Dopaminergic therapy (particularly levodopa/carbidopa) should be considered in all individuals with significant parkinsonism. Although response to levodopa is often poor, some individuals may have long-term benefit. Noninvasive or invasive ventilation support may improve quality of life and prolong life expectancy. Those patients with psychiatric manifestations may benefit from antidepressants and psychiatric care. Weight loss is managed with appropriate dietary changes. Surveillance: Routine evaluation of weight and calorie intake, respiratory function (particularly at night or during sleep), strength; and mood. Agents/circumstances to avoid: Central respiratory depressants (e.g., benzodiazepines, alcohol).


Perry syndrome is inherited in an autosomal dominant manner. The proportion of cases attributed to de novo mutations is unknown. Each child of an individual with Perry syndrome has a 50% chance of inheriting the mutation. Prenatal testing is possible for families in which the disease-causing mutation has been identified.

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