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Disease Information for Spinopontine Atrophy /MJD disease

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

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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