Program Operations Manual System (POMS)
TN 30 (08-20)
COMPASSIONATE ALLOWANCES INFORMATION
|
ALPERS DISEASE
|
ALTERNATE NAMES
|
Alpers Syndrome; Alpers Progressive Infantile Poliodystrophy; Progressive Sclerosing
Poliodystrophy; Progressive Cerebral Poliodystrophy; Diffuse Cerebral Sclerosis of
Schilder
|
DESCRIPTION
|
Alpers disease is a progressive, neurodevelopmental syndrome characterized by psychomotor regression
(dementia), seizures, and liver disease. A mutation in the gene for the mitochondrial
DNA polymerase POLG causes this disease. Most affected individuals do not show symptoms
at birth and develop normally for weeks to years before the onset of symptoms.
|
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
|
Diagnostic
testing: The diagnosis is established by testing for the POLG gene.
Physical
findings: The physical findings of Alpers disease may include:
-
-
•
Hypoglycemia secondary to underlying liver disease;
-
-
-
•
Infection-associated encephalopathy;
-
•
Increased muscle tone or abnormal movements;
-
-
-
•
Gastrointesinal dysfunction;
-
-
-
-
-
-
-
-
ICD-9: 330.8
ICD-10:
G31.81
|
PROGRESSION
|
About 80 percent of children with Alpers disease develop symptoms in the first two
years of life, and the rest develop symptoms between the ages of 2 and 25.
The prognosis is poor, with death usually occurring within ten years after diagnosis
due to liver failure, cardiorespiratory failure, or unremitting seizures.
|
TREATMENT
|
There is no cure for Alpers disease and no way to slow its progression. Treatment
is symptomatic and supportive. Anticonvulsant medications may be used to treat the
seizures, with usually poor medical response. Physical therapy may help to relieve
spasticity and maintain or increase muscle tone.
|
SUGGESTED PROGRAMMATIC ASSESSMENT*
|
Suggested MER for Evaluation:
-
•
Clinical history and examination that describes the progression of neurological and
cognitive decline from the claimant’s medical source(s);
-
-
•
Laboratory tests consistent of hepatic failure; and
-
•
Activities of daily living report.
|
Suggested Listings for Evaluation:
|
DETERMINATION
|
LISTING
|
REMARKS
|
Meets
|
111.02
|
|
111.17
|
|
112.02
|
|
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.
|