Disease Information for Spinopontine Atrophy /MJD disease

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Clinical Manifestations
Signs & Symptoms
Ataxia
Ataxia, Cerebellar type
Ataxia/Motor tremor type
Movement or gait disorder/signs
Neurologic manifestations/signs
Neurological symptoms/signs
Staggering Gait
Unable to tandem walk/straight line
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
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 pontine lesion
Associated Diseases & Rule outs
Associated Disease & Complications
Myelopathy manifestations/involvement
Spinopontine atrophy/MJD disease
Ataxia Disorder
Disease Mechanism & Classification
Class
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease/Adult manifestations
Pathophysiology/CNS degeneration
Pathophysiology/Neurologic degenerative disorder (ex)
Process
PROCESS/Atrophic disorders (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Movement disorder (ex)
PROCESS/Developmental degenerative neurological disorder (ex)
PROCESS/Hereditary SCA (spinocerebellar ataxias)
Synonyms
Synonym
Autosomal Dominant Striatonigral Degeneration, AZOREAN DIS, AZOREAN DIS MACHADO JOSEPH, AZOREAN DIS NERVOUS SYSTEM, Azorean Disease, Azorean disease (disorder), Azorean Disease (Machado Joseph), Azorean Disease Nervous System, Azorean Diseases (Machado Joseph), AZOREAN NEUROLOGIC DISEASE, Disease Azorean, Disease Azorean (Machado Joseph), Disease Joseph, Disease Joseph Azorean, Disease Machado Joseph, Disease Machado Joseph Azorean, Diseases Azorean (Machado Joseph), JOSEPH AZOREAN DIS, Joseph Azorean Disease, JOSEPH DIS, Joseph Disease, MACHADO JOSEPH AZOREAN DIS, Machado Joseph Azorean Disease, MACHADO JOSEPH DIS, Machado Joseph Disease, MJD, MJD Machado Joseph disease, NERVOUS SYSTEM AZOREAN DIS, Nervous System Azorean Disease, NIGROSPINODENTATAL DEGENERATION, Portuguese Azorean disease, SCA3, Spinocerebellar Ataxia 3, SPINOCEREBELLAR ATAXIA TYPE 003, Spinocerebellar Ataxia Type 3, SPINOCEREBELLAR ATROPHY III, SPINOPONTINE ATROPHY, Striatonigral Degeneration Autosomal Dominant, Type 3 Spinocerebellar Ataxia, Synonym/Machado-Joseph disease, Synonym/MJD/Machado-Joseph disease
Definition

Machado-Joseph Disease;Autosomal Dominant Spinocerebellar Degeneration; Azorean Neurologic Disease; Joseph Disease; MJD; Machado Disease; Nigrospinodentatal Degeneration; Spinocerebellar Ataxia Type III (SCA 3); Striatonigral Degeneration, Autosomal Dominant Type; Disorder Subdivisions; Machado-Joseph Disease Type I (MJD-I); Machado-Joseph Disease Type II (MJD-II); Machado-Joseph Disease Type III (MJD-III); Machado-Joseph Disease (MJD-III), also called spinocerebellar ataxia type III, is a rare, inherited, ataxia (lack of muscular control) affecting the central nervous system and characterized by the slow degeneration of particular areas of the brain called the hindbrain; Patients with MJD may eventually become crippled and/or paralyzed but their intellect remains intact; The onset of symptoms of MJD varies from early teens to late adulthood; Three forms of Machado-Joseph Disease are recognized: Types MJD-I, MJD-II, and MJD-III; The differences in the types of MJD relate to the age of onset and severity; Earlier onset usually produces more severe symptoms--------[NORD]----------

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External Links Related to Spinopontine Atrophy /MJD disease
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Wikipedia
Merck
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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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