Disease Information for Spinocerebellar ataxia, Hered/Type I

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Clinical Manifestations
Signs & Symptoms
Ataxia
Ataxia, Cerebellar type
Ataxia/Motor tremor type
Babinski's upgoing toes/bilateral
Dysdiadochokinesia/Alternating failure
Extrapyramidal signs
Fine-motor coordination problems
Gait disturbance/abnormality
Long tract signs
Multifocal neurologic deficit/signs
Myoclonus/Myoclonic jerks on exam
Nystagmus
Nystagmus, pendular
Position sense decreased/proprioception
Position sense decreased/proprioception Legs
Staggering Gait
Tremor
Tremor in Children
Tremor,coarse
Unable to tandem walk/straight line
Unsteadiness movement/Gait in a child
Vibratory sense decreased
Unable to walk/night
True Vertigo Sign Confirmed
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Ataxia
Family history/Gait disorders
Family history/Tremor
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
DNATest specific/genetics laboratory/abnormality (Lab)
Diagnostic Test Results
CT Scan
CT Scan/Head Brain/cerebellar atrophy
MRI/Head Cerebellar atrophy
Associated Diseases & Rule outs
Rule Outs
Ataxia-telangiectasia
Combined system disease/B12 deficiency
Normal pressure hydrocephalus
Peroneal muscular atrophy/Charcot Marie Tooth
Associated Disease & Complications
Ataxic neuropathy
Cerebellar ataxia
Congenital Nystagmus
Extrapyramidal disease/manifestation
Paraparesis
Paraplegia, spastic
Spinal cord lesion/dysfunction
Spinocerebellar ataxia, hereditary/Type I
Ataxia Disorder
Disease Mechanism & Classification
Class
CLASS/Cerebellar disorder (ex)
CLASS/Neurologic (category)
CLASS/Spinal cord disorder (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease/Adult manifestations
Pathophysiology/CNS degeneration
Pathophysiology/Neurologic degenerative disorder (ex)
Pathophysiology/Posterior columns cord def
Genomics position 12p13 .3 ATN1
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Hereditofamilial (category)
PROCESS/Movement disorder (ex)
PROCESS/Congenital CNS disorder (ex)
PROCESS/Developmental degenerative neurological disorder (ex)
PROCESS/Hereditary ataxia disorder (ex)
PROCESS/Hereditary SCA (spinocerebellar ataxias)
Definition

Ataxia, Hereditary, Autosomal Dominant

Dentato-Rubro-Pallido-Luysian Atrophy

Episodic Ataxia

Progressive Cerebellar Ataxia, Familial

SCA

Spinocerebellar Ataxia

Disorder Subdivisions

Marie"s Ataxia

General Discussion

The hereditary ataxias are a group of neurological disorders (ataxias) of varying degrees of rarity that are inherited, in contrast to a related group of neurological disorders that are acquired through accidents, injuries, or other external agents. The hereditary ataxias are characterized by degenerative changes in the brain and spinal cord that lead to an awkward, uncoordinated walk (gait) accompanied often by poor eye-hand coordination and abnormal speech (dysarthria). Hereditary ataxia in one or another of its forms may present at almost any time between infancy and adulthood.

The classification of hereditary ataxias is complex with several schools of thought vying for recognition. This report follows the classification presented by Dr. Thomas D. Bird and the University of Washington’s GeneReviews.

This classification is based on the pattern of inheritance or mode of genetic transmission of the disorder: i.e., autosomal dominant, autosomal recessive and X-linked. The autosomal dominant ataxias, also called the spinocerebellar ataxias, are usually identified as SCA1 through SCA25. Also included are several "episodic ataxias", as well as a very rare disorder known as DRPLA (dentato-rubro-pallido-luysian atrophy). This report deals with the autosomal dominant hereditary ataxias. There are fewer autosomal recessive hereditary ataxias than autosomal dominant hereditary ataxias, and X-linked forms of ataxia are very rare.

Until recently, all autosomal dominant ataxias were called Marie’s ataxia and all autosomal recessive ataxias were called Friedreich’s ataxia.[NORD 2005]

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External Links Related to Spinocerebellar ataxia, Hered/Type I
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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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