Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with movement, typically beginning in childhood. Movement abnormalities include involuntary muscle spasms, rigidity, and trouble with walking that worsens over time. Many people with this condition also develop problems with speech (dysarthria), and some develop vision loss. Additionally, affected individuals may experience a loss of intellectual function (dementia) and psychiatric symptoms such as behavioral problems, personality changes, and depression.
Mutations in the PANK2 gene cause pantothenate kinase-associated neurodegeneration.
The precise incidence of this condition is unknown. It is estimated to affect 1 to 3 per million people worldwide.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Thomas Klopstock is in Munich, Germany. Klopstock is rated as an Elite expert by MediFind in the treatment of Pantothenate Kinase-Associated Neurodegeneration. He is also highly rated in 34 other conditions, according to our data. His top areas of expertise are Optic Nerve Atrophy, Leber Hereditary Optic Neuropathy, Pantothenate Kinase-Associated Neurodegeneration, and Hallervorden-Spatz Disease.
Susanne Schneider is in Munich, Germany. Schneider is rated as an Elite expert by MediFind in the treatment of Pantothenate Kinase-Associated Neurodegeneration. She is also highly rated in 29 other conditions, according to our data. Her top areas of expertise are Hallervorden-Spatz Disease, Pantothenate Kinase-Associated Neurodegeneration, Drug Induced Dyskinesia, and Chorea.
Penelope Hogarth is a Neurologist in Portland, Oregon. Dr. Hogarth has been practicing medicine for over 28 years and is rated as an Elite doctor by MediFind in the treatment of Pantothenate Kinase-Associated Neurodegeneration. She is also highly rated in 5 other conditions, according to our data. Her top areas of expertise are Pantothenate Kinase-Associated Neurodegeneration, Hallervorden-Spatz Disease, Beta-Propeller Protein-Associated Neurodegeneration, and Drug Induced Dyskinesia. She is licensed to treat patients in Oregon. Dr. Hogarth is currently accepting new patients.
Published Date:updated Last, June
Published By: National Institutes of Health