Hallervorden-Spatz Disease Overview
Learn About 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.
Hallervorden-Spatz disease; Pantothenate kinase-associated neurodegeneration; PKAN; NBIA
Symptoms of NBIA begin in childhood or adulthood.
There are 10 types of NBIA. Each type is caused by a different gene variant. The most common gene variant causes the disorder called PKAN (pantothenate kinase-associated neurodegeneration).
People with all forms of NBIA have a buildup of iron in an area deep inside the brain called the basal ganglia as well as other areas of the brain that help regulate movements.
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
There is no specific treatment for NBIA. Treatment is mainly focused on regulating the symptoms. The most commonly used medicines to regulate symptoms include baclofen and trihexyphenidyl.
Penelope Hogarth is a Neurologist in Portland, Oregon. Dr. Hogarth is rated as an Elite provider by MediFind in the treatment of Hallervorden-Spatz Disease. Her top areas of expertise are Pantothenate Kinase-Associated Neurodegeneration, Hallervorden-Spatz Disease, Beta-Propeller Protein-Associated Neurodegeneration, Movement Disorders, and Deep Brain Stimulation. Dr. Hogarth is currently accepting new patients.
Nardo Nardocci practices in Milan, Italy. Nardocci is rated as an Elite expert by MediFind in the treatment of Hallervorden-Spatz Disease. Their top areas of expertise are Hallervorden-Spatz Disease, Pantothenate Kinase-Associated Neurodegeneration, Chorea, Drug Induced Dyskinesia, and Deep Brain Stimulation.
Cristina Januario practices in Coimbra, Portugal. Ms. Januario is rated as an Elite expert by MediFind in the treatment of Hallervorden-Spatz Disease. Her top areas of expertise are Hallervorden-Spatz Disease, Spinocerebellar Ataxia Type 3, Movement Disorders, and Huntington Disease.
NBIA damages the nerves over time and symptoms get worse. It leads to a lack of movement, and often death by early adulthood.
Medicine used to treat symptoms can cause complications. Being unable to move due to the disease can lead to:
- Blood clots
- Respiratory infections
- Skin breakdown
Contact your provider if your child develops:
- Increased stiffness in the arms or legs
- Increasing problems at school
- Unusual movements
Genetic counseling may be recommended for families affected by this illness. There is no known way to prevent it.
Summary: TIRCON-reg aims to * continue the provision of a global registry and natural history study for NBIA disorders * harmonize and cover existing national and single site registries * enable participation of countries and single sites that so far have no access to an NBIA registry * join forces in order to recruit sufficient numbers of patients * define the natural history of NBIA disorders * define th...
Summary: MARKERS-NDD is a prospective, observational, longitudinal study, which aims to collect data from patients affected by neurodegenerative diseases (NDD) followed longitudinally for routine examinations performed as part of normal clinical practice. Data collected from clinical evaluations, movement analysis, brain imaging, neuropsychological and electroencephalographic assessments, blood chemistry t...
Published Date: August 19, 2024
Published By: Joseph V. Campellone, MD, Department of Neurology, Cooper Medical School at Rowan University, Camden, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Jankovic J. Parkinson disease and other movement disorders. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. Bradley and Daroff's Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 96.
NBIA Disorders Association website. Overview of NBIA disorders. www.nbiadisorders.org/about-nbia/overview-of-nbia-disorders. Accessed August 20, 2024.