Program Operations Manual System (POMS)
TN 69 (12-23)
DI 23022.836 Neurodegeneration with Brain Iron Accumulation - Types 1 and 2
COMPASSIONATE ALLOWANCES INFORMATION
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NEURODEGENERATION with BRAIN IRON ACCUMULATION - TYPES 1 and 2
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ALTERNATE NAMES
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Hallervorden-Spatz Syndrome; HSS; INAD; NBIA-1; NBIA-2; Pantothenate Kinase Associated
Neurodegeneration; Pigmentary Degeneration of Globus Pallidus and Substantia Nigra
Red Nucleus, Neuroferritinopathy, Infantile; PKAN; Neuroaxonal Dystrophy
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DESCRIPTION
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Neurodegeneration with Brain Iron Accumulation (NBIA) is a rare inherited neurological movement disorder that is characterized by progressive
degeneration of the nervous system. NBIA Type 1 (NBIA-1) and Type 2 (NBIA-2) are caused
by one or more genetic mutations that result in iron being deposited in regions of
the brain that control movement and balance; the most common mutation involves the
PANK2 gene.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: The diagnosis of NBIA is based on:
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Medical and family history;
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MRI of the brain can be helpful to demonstrate the accumulation of iron in the basal
ganglia.
Although there are laboratory tests for the genetic mutations of NBIA-1 and NBIA-2,
they are expensive and not widely available.
Physical findings: Symptoms of this disease usually develop during childhood, and may include:
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Distorting muscle contractions of the limbs, face or trunk;
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Involuntary writhing muscle movements;
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Coordination difficulties;
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Difficulty swallowing or speaking;
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ICD-9: 333.0
ICD-10: E75.25
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PROGRESSION
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NBIA usually begins between 7 and 15 years of age, although it may also present earlier
(infantile onset) or later (adult onset). The severity and rate of progression correlates
with the age at onset, especially in infants and young children. Symptoms and signs
such as dystonia and spasticity eventually limit the ability to walk, and usually
progress to the use of a wheel chair by mid-teens. Life expectancy is variable, but
the average survival after diagnosis is 10-12 years. Death can occur secondary to
dystonia, impaired swallowing, and aspiration pneumonia.
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TREATMENT
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There is currently no cure for NBIA. Treatment is symptomatic and supportive. Iron
chelating medications have been attempted without significant effect. Individuals
may benefit somewhat from pharmacological therapy for specific symptoms, such as rigidity.
Physical, speech, and occupational therapies can also help with activities of daily
living.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Longitudinal clinical history and examination that describe diagnostic features and
family history;
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Imaging studies, such as an MRI.
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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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