Parkinsonism with alveolar hypoventilation and mental depression

Perry Syndrome is a rare inherited brain disease with gradual loss of neurons that regulate movement, emotion, and breathing.

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 abnormally slow breathing (hypoventilation)/hypoxia.

Physical findings: Four major features characterize Perry syndrome movement abnormalities:

1. 1. 

   Parkinsonism;

2. 2. 

   Psychiatric changes;

3. 3. 

   Weight loss; and

4. 4. 

   Hypoventilation.

Signs of parkinsonism include:

• •

  Unusually slow movements (bradykinesia);

• •

  Stiffness; and

• •

  Tremors.

Psychiatric changes include:

• •

  Depression;

• •

  Suicidal thoughts;

• •

  Apathy; and

• •

  Social withdrawal.

Significant, unexplained weight loss affects many individuals early in the disease. Hypoventilation occurs in the later stages of the disease, and can result in a life-threatening lack of oxygen and respiratory failure.

ICD-9: 294.11

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.

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; and

• •

  Sleep study results.

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