Disease Information for Machado-Joseph Syndrome

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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