Condition 101 About Hallervorden-Spatz Disease

What is the definition of Hallervorden-Spatz Disease?

Neurodegeneration with brain iron accumulation (NBIA) are a group of very rare nervous system disorders. They are passed down through families (inherited). NBIA involves movement problems, dementia, and other nervous system symptoms.

What are the alternative names for Hallervorden-Spatz Disease?

Hallervorden-Spatz disease; Pantothenate kinase-associated neurodegeneration; PKAN; NBIA

What are the causes for Hallervorden-Spatz Disease?

Symptoms of NBIA begin in childhood or adulthood.

There are 10 types of NBIA. Each type is caused by a different gene defect. The most common gene defect causes the disorder called PKAN (pantothenate kinase-associated neurodegeneration).

People with all forms of NBIA have a buildup of iron in the basal ganglia. This is an area deep inside the brain. It helps control movement.

What are the symptoms for Hallervorden-Spatz Disease?

NBIA mainly causes movement problems. Other symptoms may include:

  • Dementia
  • Difficulty speaking
  • Difficulty swallowing
  • Muscle problems such as rigidity or involuntary muscle contractions (dystonia)
  • Seizures
  • Tremor
  • Vision loss, such as from retinitis pigmentosa
  • Weakness
  • Writhing movements
  • Toe walking

What are the current treatments for Hallervorden-Spatz Disease?

There is no specific treatment for NBIA. Medicines that bind iron may help slow the disease. Treatment is mainly focused on controlling the symptoms. The most commonly used medicines to control symptoms include baclofen and trihexyphenidyl.

What is the outlook (prognosis) for Hallervorden-Spatz Disease?

NBIA gets worse and damages the nerves over time. It leads to a lack of movement, and often death by early adulthood.

What are the possible complications for Hallervorden-Spatz Disease?

Medicine used to treat symptoms can cause complications. Being unable to move from the disease can lead to:

  • Blood clots
  • Respiratory infections
  • Skin breakdown

When should I contact a medical professional for Hallervorden-Spatz Disease?

Call your provider if your child develops:

  • Increased stiffness in the arms or legs
  • Increasing problems at school
  • Unusual movements

How do I prevent Hallervorden-Spatz Disease?

Genetic counseling may be recommended for families affected by this illness. There is no known way to prevent it.

REFERENCES

Gregory A, Hayflick S, Adam MP, et al. Neurodegeneration with brain iron accumulation disorders overview. 2013 Feb 28 [updated 2019 Oct 21]. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. Seattle, WA: University of Washington; 1993-2020. PMID: 23447832 pubmed.ncbi.nlm.nih.gov/23447832/.

Jankovic J. Parkinson disease and other movement disorders. In: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology in Clinical Practice. 7th ed. Philadelphia, PA: Elsevier; 2016:chap 96.

NBIA Disorders Association. Overview of NBIA disorders. www.nbiadisorders.org/about-nbia/overview-of-nbia-disorders. Accessed November 3, 2020.

Latest Advances On Hallervorden-Spatz Disease

  • Condition: Rare Movement Disorders in Europe
  • Journal: European journal of neurology
  • Treatment Used: Botulinum Toxin or Deep Brain Stimulation
  • Number of Patients: 0
  • Published —
This study explored the management of rare movement disorders in Europe.
  • Condition: Children with neurodegeneration with brain iron accumulation
  • Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
  • Treatment Used: Palliative care
  • Number of Patients: 9
  • Published —
The study researched the outcomes of palliative care in children with neurodegeneration with brain iron accumulation.

Clinical Trials For Hallervorden-Spatz Disease

Clinical Trial
  • Status: Not yet recruiting
  • Intervention Type: Other
  • Participants: 5000
  • Start Date: March 2021
European Registry on Rare Neurological Diseases
Clinical Trial
  • Status: Recruiting
  • Phase: N/A
  • Intervention Type: Other
  • Participants: 51
  • Start Date: December 4, 2019
A Phase 2 Study of a Vitamin Metabolite for PKAN