Perry syndrome


Type of disease: Rare conditions

Perry syndrome (PS) is a rare genetic disorder that affects cells in the brain that send signals to the rest of body (neurons). The main characteristics of PS include abnormal movements (parkinsonism), slow breathing (hypoventilation), weight loss, and abnormal behaviors (psychiatric changes). Parkinsonism in PS, which causes a person to have shakes (tremors), slowed movements, and muscle stiffness, is usually accompanied by psychiatric changes, including depression, withdrawal from friends and friendly, along with suicidal thoughts. Hypoventilation is usually present later in the disease and tends to affect a person while they are sleeping. PS is a severe condition and the average survival time is 5 years after the first symptoms are seen.

PS is caused by a change (mutation) in the DCTN1 gene and is inherited in an autosomal dominant manner, which means a mutation in one of the two copies of the gene a person has is enough to cause the disorder. If a parent has PS, each one of their children has a 50% chance of inheriting the PS causing mutation. The diagnosis of PS is considered in an adult who has movement issues and changes to their personality. Since the symptoms of PS are seen in many other genetic and neurological diseases, a doctor may order tests to rule out other conditions, including imaging tests, such as a brain MRI. Genetic testing is used to confirm the diagnosis.

There is currently no cure for PS, but there are medications and therapies available to help address, and possibly slow down, symptoms of the condition. Breathing machines (ventilators) are used to help with hypoventilation. If you have been diagnosed with PS, talk to your doctor about all current treatment options. Meeting with a genetic counselor may be helpful to determine who else in the family is at risk for PS. Support groups can provide additional information.

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