TN 30 (08-20)

DI 23022.875 Perry Syndrome

COMPASSIONATE ALLOWANCES INFORMATION

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.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-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 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

ICD-10: F03.91

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; and

  • Sleep study results.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS

Meets

11.06

11.17

12.02

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.


To Link to this section - Use this URL:
http://policy.ssa.gov/poms.nsf/lnx/0423022875
DI 23022.875 - Perry Syndrome - 08/20/2020
Batch run: 07/21/2021
Rev:08/20/2020