ALTERNATE NAMES

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

DESCRIPTION

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.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of NBIA is based on:

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  Medical and family history;

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  Neurologic exam; and

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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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  Confusion;

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  Disorientation;

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  Seizures;

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  Visual impairment; and

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  Dementia.

ICD-9: 333.0

ICD-10: E75.25

PROGRESSION

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.

TREATMENT

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.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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  Longitudinal clinical history and examination that describe diagnostic features and family history;

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  Neurologic exam; and

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  Imaging studies, such as an MRI.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.17

12.02

111.17

112.02

Equals

11.06