Program Operations Manual System (POMS)
TN 54 (09-22)
DI 23022.860 Pelizaeus-Merzbacher Disease--Classic Form
COMPASSIONATE ALLOWANCES INFORMATION
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PELIZAEUS-MERZBACHER DISEASE--CLASSIC FORM
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ALTERNATE NAMES
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Classic PMD; Pelizaeus-Merzbacher Brain Sclerosis; Adult Pelizaeus-Merzbacher Disease;
Classic Pelizaeus-Merzbacher Disease
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DESCRIPTION
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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-Classic Form (Classic PMD) is the most common type.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING
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Diagnostic testing: MRI demonstrates symmetric and widespread abnormality of the white matter of the cerebrum,
brain stem, and cerebellum.
Physical findings: Individuals with Classic PMD may have:
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Infantile nystagmus (repetitive, uncontrolled eye movements);
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Abnormal muscle tone and spasticity;
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Stridor (high-pitched, whistling sound heard while taking in a breath);
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Delayed motor development;
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Ataxia (loss of full control of bodily movements);
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Intellectual disability; and
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Choreoathetosis (involuntary movements in a combination of chorea (irregular migrating
contractions) and athetosis (twisting and writhing).
ICD-9: 330.0
ICD-10: E75.25
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PROGRESSSION
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Classic PMD progresses slowly and children generally survive to adulthood. Some children
die before the age of 20, while others live much longer.
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TREATMENT
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There is no cure for PMD, and treatment is supportive. Tracheostomy and/or feeding
tubes may be necessary to avoid aspiration. Physical therapy, orthotics, and antispasticity
medications may aid in motor development, and minimize joint contractures and kyphoscoliosis;
orthopedic surgery is sometimes indicated. Developmental therapy and special education
help to maximize cognitive achievement, and speech/language therapy aids in language
development.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
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MRI of the brain showing abnormal white matter (demyelination);
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Progress reports of physical therapy, speech/language therapy; and
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Reports of educational evaluations/academic progress.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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11.17
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12.02
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111.17
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112.02
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Equals
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11.06
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* 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.
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