Disease Information for Machado-Joseph Syndrome

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Clinical Manifestations
Signs & Symptoms
Dysphagia Swallowing Difficulties
Muscle fasciculations
Ataxia
Ataxia, Cerebellar type
Cerebellar movement disorder/signs
Cerebellar signs
Dysarthria
Intelligence normal
Limb Ataxia
Pyramidal tract signs
Staggering Gait
Difficulty Talking
Disease Progression
Onset/Adolescence/puberty
Onset/Young adult
Associated Diseases & Rule outs
Rule Outs
Shy-Drager syndrome
Associated Disease & Complications
Ophthalmoplegia
Ataxia Disorder
Disease Mechanism & Classification
Class
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus chromosome 14
Pathophysiology/Gene locus Chromosome 14q
Pathophysiology/Gene locus 14q32.1
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Hereditofamilial (category)
PROCESS/Developmental degenerative neurological disorder (ex)
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/Azorean Neurologic Disease, Synonym/Joseph Disease/MJD/SCAIII, Synonym/Nigrospinodentatal Degeneration, Synonym/SCA3 (Spinal Cerebellar Ataxia), Synonym/Spinocerebellar Ataxia Type III, Synonym/Spinocerebellar ataxia, hereditary
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; Machado-Joseph Disease (MJD-III), also called spinocerebellar ataxia type III, is a rare, inherited, ataxia 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 2005]----------

This is an autosomal dominant cerebellar ataxia; This is a heterogeneous group of adult-onset progressive ataxias which have an autosomal dominant mode of inheritance; There is often a widespread neuronal degeneration which resembles multiple system atrophy; There are three main clinical groups: spinocerebellar ataxia type 1, spinocerebellar ataxia type 2, Machado-Joseph syndrome, cerebellar cortical degeneration-----------[gpnotebook_com 2005]----------------

Machado-Joseph disease (MJD), an autosomal dominant spinocerebellar degeneration caused by an expanded CAG repeat on chromosome 14q32_1, is a heterogeneous disorder for clinical manifestations; The reasons for the wide range of neurologic findings in this disease are poorly understood; A direct relationship was found between the disease duration and severity of gait and limb ataxia, dysarthria, dysphagia, fasciculations, pyramidal syndrome, and ophthalmoplegia

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External Links Related to Machado-Joseph 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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