Program Operations Manual System (POMS)
TN 85 (09-25)
DI 23022.865 Pelizaeus-Merzbacher Disease – Connatal Form
COMPASSIONATE ALLOWANCES INFORMATION
|
PELIZAEUS-MERZBACHER DISEASE
–
CONNATAL FORM |
ALTERNATE NAMES
|
Cockayane-Pelizaeus-Merzbacher Disease; Connatal Pelizaeus-Merzbacher Disease; Connatal
PMD; Severe PMD; Type II Connatal Pelizaeus-Merzbacher Disease
|
DESCRIPTION
|
Pelizaeus-Merzbacher
disease
(PMD) is a rare, neurodegenerative disorder and is one of a group of genetic disorders
called leukodystrophies affecting the white matter of the brain and spinal cord.
There are two main types of PMD: classic
PMD and connatal PMD. Pelizaeus-Merzbacher
disease
- connatal
form
(Connatal PMD) is the most severe, with profound motor and cognitive developmental delays.
|
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
|
Diagnostic testing: Magnetic resonance imaging (MRI) demonstrates symmetric and widespread abnormality
of the white matter of the cerebrum, brain stem, and cerebellum.
Physical findings: Individuals with connatal PMD have:
-
-
•
Microcephaly (abnormally small skull);
-
-
•
Ataxia (lack of muscle control and coordination);
-
•
Generalized hypotonia (decreased muscle tone); and
-
•
Nystagmus (involuntary eye movement).
ICD-9: 330.0
ICD-10: E75
|
PROGRESSION
|
Connatal PMD presents in the first month of life and is often fatal during the first
decade of life, typically due to respiratory complications.
|
TREATMENT
|
There is no cure for PMD, and treatment is supportive and symptom specific. Physical
and occupational therapies are used to minimize joint contractures and dislocations.
Tracheostomy may be necessary for pharyngeal weakness. Medications are prescribed
for seizures and movement disorders.
|
SUGGESTED PROGRAMMATIC ASSESSMENT*
|
Suggested MER for Evaluation:
-
•
Clinical history and examination that describes the diagnostic features of the impairment;
and
-
•
MRI of the brain showing abnormal white matter (demyelination).
|
Suggested Listings for
Evaluation: |
DETERMINATION
|
LISTING
|
REMARKS
|
Meets
|
110.08
|
|
111.06
|
|
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.
|