Disease Information for Hallervorden-Spatz disease (PKAN/NBIA)

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Clinical Manifestations
Signs & Symptoms
Ataxia
Athetosis
Basal ganglion signs
Choreoathetoid movement
Dysarthria
Dystonia
Gait disturbance/abnormality
Intellectual Decline Children
Mental Deficiency Child
Myoclonus/Myoclonic jerks on exam
Slow speech
Staggering Gait
Unable to tandem walk/straight line
Difficulty Talking
Cherry red spot/retinal sign
Clinical Presentation & Variations
Presentation/Mental Retardation Progressive
Presents/Myoclonus Epilepsy Mental Decline <20
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Progressive/slowly chronic illness
Onset/Childhood
Onset/gradual
Onset/insidious
Onset/Second decade
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Gait disorders
Family history/Mental retardation
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
Pathology
PATH/CNS/Iron deposition/Substantia Nigra region
PATH/Defective myelinatin/basal ganglia
CT Scan
MRI/Head Brain Abnormal
MRI/Head Grey matter degeneration
MRI/Head lesions basal ganglia
MRI/Head Scan Abnormal
Associated Diseases & Rule outs
Rule Outs
Gilles de Tourette syndrome
Associated Disease & Complications
Basal gangion lesion/secondary
Hallervorden-Spatz disease
Mental retardation
Ataxia Disorder
Secondary Dystonia
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus Chromosome 20
Pathophysiology/Gene PANK2 on Chromosome 20
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/CNS degeneration
Pathophysiology/Globus pallidus lesion/manifestation
Pathophysiology/Neurologic degenerative disorder (ex)
Pathophysiology/Substantia Nigra involvement/disorder (ex)
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Hereditary ataxia disorder (ex)
PROCESS/Hereditary SCA (spinocerebellar ataxias)
Synonyms
Synonym
Atrophies Pigmentary Pallidal, Atrophy Pigmentary Pallidal, Brain Iron Accumulation Type I Syndrome, degeneration pallidal pigmentary, Degeneration Pigmentary Pallidal, degeneration pigmentary pallidal (progressive), Degenerations Pigmentary Pallidal, Hallervorden Spatz, HALLERVORDEN SPATZ DIS, Hallervorden Spatz Disease, Hallervorden Spatz Syndrome, NBIA 1, NEUROAXONAL DYSTROPHY JUVENILE ONSET, Pallidal Atrophies Pigmentary, Pallidal Atrophy Pigmentary, Pallidal Degenerations Pigmentary, pallidal pigmentary degeneration, PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION, pigmentary degeneration pallidal, pigmentary degeneration pallidal (progressive), Pigmentary Pallidal Atrophies, Pigmentary pallidal atrophy, Pigmentary pallidal degener, Pigmentary pallidal degeneration, Pigmentary pallidal degeneration (disorder), Pigmentary Pallidal Degenerations, PKAN, Synonym/Pallidal degeneration, progressive, Synonym/Pantothenate kinase 2 defect/cns, Synonym/Status dysmyelinatus
Definition

A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence; Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years; Pathologic examination reveals neuronal atrophy in the globus pallidus and iron deposition in blood vessels and perivascular spaces; (From Adams et al, Principles of Neurology, 6th ed)--------------------------------------------Brain Iron Accumulation Type 1; HSS; Hallervorden-Spatz Syndrome; NBIA1; NBIA1; Pantothenate Kinase Associated Neurodegeneration (PKAN); Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus; Neurodegeneration with Brain Iron Accumulation Type 1 (Hallervorden-Spatz syndrome) is a rare, inherited, neurological movement disorder characterized by the progressive degeneration of the nervous system (neurodegenerative disorder); Recently, one of the genetic causes was identified; however, there are probably other causative genes that exist that have not yet been found; Approximately 50% of individuals with a clinical diagnosis of NBIA1 have gene mutations in PANK2, which helps to metabolize vitamin B5 (Pantothenic acid); The common feature among all individuals with NBIA1 is iron accumulation in the brain, along with a progressive movement disorder; Individuals can plateau for long periods of time and then undergo intervals of rapid deterioration; Symptoms may vary greatly from case to case, partly because the genetic cause may differ between families; There are likely different genes that cause NBIA1 and furthermore different mutations within a gene that could lead to a more or less severe presentation;

Common features include dystonia, (an abnormality in muscle tone), muscular rigidity, and sudden involuntary muscle spasms (spasticity); These features can result in clumsiness, gait (walking) problems, difficulty controlling movement, and speech problems; Another common feature is degeneration of the retina, resulting in progressive night blindness and loss of peripheral (side) vision; In general, symptoms are progressive ----------[NORD 2005]---------

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External Links Related to Hallervorden-Spatz disease (PKAN/NBIA)
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