Hallervorden-Spatz disease
A genetic neurodegenerative disease with brain iron accumulation
| Pantothenate kinase-associated neurodegeneration / Hallervorden-Spatz disease | |
|---|---|
| |
| Synonyms | Neurodegeneration with brain iron accumulation 1 |
| Pronounce | |
| Field | Neurology |
| Symptoms | Dystonia, parkinsonism, dementia |
| Complications | |
| Onset | Under 10 years (classical), Over 10 years (atypical) |
| Duration | |
| Types | Classical, atypical |
| Causes | PANK2 mutation |
| Risks | |
| Diagnosis | |
| Differential diagnosis | |
| Prevention | |
| Treatment | |
| Medication | |
| Prognosis | |
| Frequency | 1–3 per 1 million people |
| Deaths | |
Pathophysiology[edit | edit source]
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[edit | edit source]
Several genes have been found that cause NBIA.
Signs and symptoms[edit | edit source]
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[edit | edit source]
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[edit | edit source]
Cognitive decline occurs in some forms of NBIA; the majority of individuals with NBIA do not have cognitive impairment.
| Classification | |
|---|---|
| External resources |
- synd/1082 at Who Named It?
- nbia at NINDS
| This article is a stub. You can help WikiMD by registering to expand it. |
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Contributors: Prab R. Tumpati, MD
