PERRY SYNDROME

ALTERNATE NAMES

Parkinsonism with alveolar hypoventilation and mental depression

DESCRIPTION

Perry Syndrome is a rare inherited brain disease with gradual loss of neurons that regulate movement, emotion, and breathing. Four major features characterize Perry syndrome: movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation).

Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. Psychiatric changes include depression, altered personality, and unusual behavior. Many affected individuals also experience significant, unexplained weight loss early in the disease. Hypoventilation is a late finding, and can result in a life-threatening lack of oxygen and respiratory failure.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: The diagnosis of Perry syndrome is made by molecular genetic testing for DCTN1, the only gene known to be associated with Perry syndrome; and sleep studies to document hypoventilation/hypoxia.

Physical findings: Symmetric features of parkinsonism that are less severe than that found in Parkinson disease. When present, tremor is often postural with typical rest tremor. Psychiatric findings of depression, suicidal thoughts, apathy, social withdrawal, and weight loss.

ICD-9: 331.82

ONSET AND PROGRESSION

Perry syndrome commonly presents around age 48, with the average survival of 5 years after symptoms first appear. Death is common from respiratory failure or pneumonia; suicide is another cause.

TREATMENT

There is no cure for Perry syndrome. Treatment involves the management of symptoms, including medications for movement disorders and psychiatric symptoms; ventilatory support; and nutritional supplements.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

• Clinical history and examination that describes the diagnostic features of the impairment from the claimant’s medical source(s) documenting progressive physical, neurological findings of Perry syndrome.

• Sleep study results

Suggested Listings for Evaluation:

DETERMINATION

LISTING

Meets Listing

11.06

11.17

12.02

Medical Equals