Hallervorden-Spatz disease

From WikiMD's Wellness Encyclopedia

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



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Contributors: Prab R. Tumpati, MD