Titre
Perry Syndrome
Type
chapitre
Institution
UNIL/CHUV/Unisanté + institutions partenaires
Auteur(s)
Wszolek, Z.K.
Auteure/Auteur
Wider, C.
Auteure/Auteur
Éditeur(s)
Pagon, R.A.
Bird, T.D.
Dolan, C.R.
Liens vers les personnes
Liens vers les unités
Maison d’édition
University of Washington
Lieu d’édition
Seattle
Titre du livre ou conférence/colloque
GeneReviews [Internet]
Statut éditorial
Publié
Date de publication
2010
Edition
September 30
Première page
online
Langue
anglais
Notes
Publication Status: ppublish
Résumé
Disease characteristics. 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. Diagnosis/testing. The diagnosis is based on clinical findings and molecular genetic testing of DCTN1, the only gene known to be associated with Perry syndrome. Management.
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). Genetic counseling. 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. No laboratories offering molecular genetic testing for prenatal diagnosis are listed in the GeneTests Laboratory Directory; however, prenatal testing may be available through laboratories offering custom prenatal testing for families in which the disease-causing mutation has been identified.
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). Genetic counseling. 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. No laboratories offering molecular genetic testing for prenatal diagnosis are listed in the GeneTests Laboratory Directory; however, prenatal testing may be available through laboratories offering custom prenatal testing for families in which the disease-causing mutation has been identified.
PID Serval
serval:BIB_08769C795057
PMID
URL éditeur
Date de création
2011-03-13T09:11:04.142Z
Date de création dans IRIS
2025-05-20T19:59:03Z