Hallervorden-Spatz disease

Pathophysiology

Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. Also known as Pantothenate kinase-associated neurodegeneration.

Cause

Several genes have been found that cause NBIA.

Signs and symptoms

Symptoms, which vary greatly among patients and usually develop during childhood, may include:

• dystonia (slow writhing, distorting muscle contractions of the limbs, face, or trunk)
• dysarthria (slurred or slow speech)
• choreoathetosis (involuntary, purposeless jerky muscle movements)
• muscle rigidity (uncontrolled tightness of the muscles)
• spasticity (sudden, involuntary muscle spasms)
• ataxia (inability to coordinate movements)
• confusion
• seizures
• stupor
• dementia
• visual changes

Treatment

There is no cure for NBIA, nor is there a standard course of treatment. Treatment is symptomatic and supportive, and may include physical or occupational therapy, exercise physiology, and/or speech pathology. Many medications are available to treat the primary symptoms of dystonia and spasticity, including oral medications, intrathecal baclofen pump (in which a small pump is implanted under the skin and is programmed to deliver a specific amount of medication on a regular basis), deep brain stimulation, and botulinum toxin injection.

Prognosis

Cognitive decline occurs in some forms of NBIA; the majority of individuals with NBIA do not have cognitive impairment.

Classification	ICD-10: G23.0 ICD-9-CM: 333.0 OMIM: 234200 MeSH: D006211 DiseasesDB: 29462
External resources	MedlinePlus: 001225 eMedicine: neuro/151 GeneReviews: Pantothenate Kinase-Associated Neurodegeneration

• 02041 at CHORUS

• synd/1082 at Who Named It?
• nbia at NINDS

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