Is PKAN fatal?
All three of Jessop’s children were diagnosed with pantothenate kinase-associated neurodegeneration, or PKAN. PKAN is an incredibly rare, and always fatal, disease that creates build up of iron in the brain, causing developmental difficulties.
What does PKAN stand for?
Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis.
Is there a cure for PKAN?
Although there is currently no established therapy for PKAN, various drugs are used to alleviate or lessen its symptoms. Baclofen, a gamma-aminobutyric acid (GABA) receptor agonist, is one of the ‘mainstay drugs’ used to treat dystonia in patients with PKAN4.
What is hallervorden Spatz syndrome?
Summary. Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden-Spatz syndrome, is a rare, inherited neurological movement disorder characterized by the progressive degeneration of specific regions in the central nervous system (neurodegenerative disorder).
What is Aceruloplasminemia?
Aceruloplasminemia is a rare genetic disorder characterized by the abnormal accumulation of iron in the brain and various internal organs. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders.
What is Neuroferritinopathy?
Neuroferritinopathy is a disorder in which iron gradually accumulates in the brain. Certain brain regions that help control movement (basal ganglia) are particularly affected. People with neuroferritinopathy have progressive problems with movement that begin at about age 40.
What is Segawa?
General Discussion. Segawa syndrome is a rare genetic disorder characterized by an uncoordinated or clumsy manner of walking (abnormal gait) and dystonia.
What is Atransferrinemia?
Atransferrinemia is an extremely rare genetic disorder characterized by low levels of healthy, functional red cells in the blood (hypochromic, microcytic anemia) and by the accumulation of excess iron in the body (hemosiderosis).