Machado-joseph Disease; Mjd

Description

Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease.Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008).

Clinical Features

Top most frequent phenotypes and symptoms related to Machado-joseph Disease; Mjd

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Ptosis
  • Flexion contracture
  • Visual impairment
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy

And another 73 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Machado-joseph Disease; Mjd Is also known as spinocerebellar ataxia 3, spinocerebellar atrophy iii, spinopontine atrophy, azorean neurologic disease, nigrospinodentatal degeneration, sca3.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Machado-joseph Disease; Mjd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SCA3 (MJD/ATXN3) Repeat Expansion Test.

By Athena Diagnostics Inc (United States).

ATXN3
Specificity
100 %
Genes
100 %
Ataxia, Common Repeat Expansion Evaluation.

By Athena Diagnostics Inc (United States).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, TBP, CACNA1A, ATXN3
Specificity
13 %
Genes
100 %
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Ataxia, Complete Dominant Evaluation.

By Athena Diagnostics Inc (United States).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Spinocerebellar ataxia 3.

By Center for Human Genetics, Inc (United States).

ATXN3
Specificity
100 %
Genes
100 %
Spinocerebellar ataxia type 3.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

ATXN3
Specificity
100 %
Genes
100 %
Spinocerebellar Ataxia Panel (SCA1,2,3,6, and 7).

By Center for Genetics at Saint Francis Saint Francis Hospital (United States).

ATXN1, ATXN2, ATXN7, CACNA1A, ATXN3
Specificity
20 %
Genes
100 %
Spinocerebellar ataxia type 3.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

ATXN3
Specificity
100 %
Genes
100 %

We have 44 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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