Program Operations Manual System (POMS)
TN 69 (12-23)
DI 23022.890 Schindler Disease -- Type I
COMPASSIONATE ALLOWANCES INFORMATION
|
SCHINDLER
DISEASE
-- TYPE I
|
ALTERNATE NAMES
|
Neuroaxonal Dystrophy Schindler type; Alpha-N-Acetylgalactosaminidase Deficiency Type
1; NAGA Deficiency Type 1; Alpha NAGA Deficiency Schindler Type; Schindler Disease
Type 1 Infantile Onset; Schindler Disease Infantile Type; Schindler Disease Classic
Form
|
DESCRIPTION
|
Schindler Disease -- Type I is a rare inherited neurodegenerative disorder that is caused by mutations in the
NAGA gene. The abnormal activity of the NAGA gene causes intracellular accumulations
of glycoproteins and glycolipids and eventual cell death. The most affected organ
is the central nervous system. Schindler Disease -- Type 1 is the most severe type
of this disorder and has an infantile onset.
|
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
|
Diagnostic testing: Blood cells or skin biopsies document reduced or absent NAGA enzyme activity.
Physical findings:
-
•
Neurodevelopmental regression;
-
•
Profound intellectual disability;
-
•
Nystagmus (uncontrolled eye movements);
-
-
•
Hypotonia (floppy muscle tone) that later evolves into muscle hypertonicity (too much
muscle tone) and rigidity.
ICD-9: 271.8
ICD-10:E74.9
|
PROGRESSION
|
Infants with this disease have normal physical development during the first months
of life after which they experience developmental regression beginning at 8 – 15 months.
Worsening muscle tone and decreased movement, vision loss, and seizures may become
evident as the disease progresses.
|
TREATMENT
|
There is no current cure for this disease. Treatment is supportive.
|
SUGGESTED PROGRAMMATIC ASSESSMENT*
|
Suggested MER for Evaluation:
-
•
Clinical history and examination that describes the diagnostic features of the impairment;
and
-
•
Laboratory findings with decreased activity of alpha-NAGA
|
Suggested Listings for Evaluation:
|
DETERMINATION
|
LISTING
|
REMARKS
|
Meets
|
110.08 B
|
|
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.
|