Disease Information for Familial Basal ganglion calcification (Fahr's syndrome)

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Clinical Manifestations
Signs & Symptoms
Akinetic rigid frozen Posture
Muscle stiffness/rigidity
Basal ganglion signs
Chorea signs
Choreoathetosis
Dystonia
Dystonic Posturing
Pill-rolling tremor/Parkinsonoid
Tremor
Tremor in Children
Tremor,resting
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset/fifth decade
Onset/sixth decade
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
Pathology
PATH/Brain/Basal ganglion neuron degeneration
CT Scan
CT Scan/Head Brain Abnormality
CT Scan/Head Calcified Basal ganglia
CT Scan/Head lesion basal ganglia
MRI/Head Brain Abnormal
MRI/Head lesions basal ganglia
X-RAY
Xray/Basal ganglia calcification/Skull
Xray/Calcifications intracranial/brain/Skull
Xray/Multiple intracranial calcifications/Head
Associated Diseases & Rule outs
Rule Outs
Parkinsons disease
Associated Disease & Complications
Basal ganglion hemorrhage
Dementia
Dementia, terminal
Familial cerebrovascular ferrocalcinosis
Parkinsonism, secondary
Seizure disorder (epilepsy)
Akinetic Rigid Syndrome
Secondary Dystonia
Disease Mechanism & Classification
Class
CLASS/Basal ganglia lesion/involvement/disorders (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/CNS degeneration
Pathophysiology/Developmental degeneration CNS
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Hereditary developmental disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Developmental degenerative neurological disorder (ex)
Synonyms
Synonym
BASAL GANGLIA CALCIFICATION IDIOPATHIC 1, BSPDC, CEREBRAL CALCIFICATION NONARTERIOSCLEROTIC IDIOPATHIC ADULT ONSET, Cerebral symmetric calcification, Cerebrovascular ferrocalcinosis, Fahr disease, FAHR DISEASE FAMILIAL FORMERLY, Fahr's disease, Fahr's syndrome, Fahr's syndrome (disorder), FERROCALCINOSIS CEREBROVASCULAR, IBGC1, Idiopathic nonarteriosclerotic cerebrovascular calcification, STRIOPALLIDODENTATE CALCINOSIS AUTOSOMAL DOMINANT ADULT ONSET, STRIOPALLIDODENTATE CALCINOSIS BILATERAL, Synonym/Fahr disease, Synonym/Fahr syndrome (basal gangion calcification), Synonym/Familial cerebrovasc/ferrocalcific basal ganglion synd, Synonym/Idiopathic Calcific basal gangia syndrome
Definition

Fahr"s syndrome rare hereditary autosomal dominant neurologic disorder; onset of basal ganglion syndrome progressive begins in 40s to 50s; characterized by slow progession of dementia, seizures, regression mentation, all with typical parkinsonism like syndrome; head xrays or ct confirm in part; cortex is involved and onset as early as childhood/adolescence described;----------------------------------- Fahr"s Disease; Cerebrovascular Ferrocalcinosis;

Idiopathic Basal Ganglia Calcification (IBGC); Nonarteriosclerotic Cerebral Calcifications;SPD Calcinosis

Striopallidodentate Calcinosis; Fahr"s Disease is a rare degenerative neurological disorder characterized by the presence of abnormal calcium deposits (calcifications) and associated cell loss in certain areas of the brain (eg, basal ganglia); The condition is often referred to as idiopathic basal ganglia calcification or IBGC because there is no apparent explanation for such calcification in these brain regions (idiopathic); Associated symptoms include progressive deterioration of cognitive abilities (dementia) and loss of acquired motor skills; As the condition progresses, paralysis may develop that is associated with increased muscle stiffness (rigidity) and restricted movements (spastic paralysis); Additional abnormalities may include relatively slow, involuntary, continual writhing movements (athetosis) or chorea, a related condition characterized by irregular, rapid, jerky movements; In some affected individuals, there may also be gradual deterioration of the nerve fibers that transmit impulses from the retinas to the brain (optic atrophy), a condition associated with partial or near complete visual impairment; Fahr"s Disease is often familial; Familial Fahr"s Disease may be transmitted as an autosomal recessive trait or, in other affected families (kindreds), may have autosomal dominant inheritance; In other instances, the condition appears to occur randomly for unknown reasons (sporadically); Some experts suggest that the condition may sometimes result from an unidentified infection during pregnancy affecting the developing fetus (intrauterine infection);--------[NORD 2005]--------

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External Links Related to Familial Basal ganglion calcification (Fahr's syndrome)
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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