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Azorean disease

Synonyms
Azorean neurologic disease; Machado-Joseph disease; Nigrospinodentatal degeneration; SPINOCEREBELLAR ATROPHY III; Spinocerebellar Ataxia Type 3; Spinocerebellar atrophy type 3; Spinopontine atrophy
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Spinocerebellar Ataxia Type 3
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. Neurologic findings tend to evolve as the disorder progresses.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Henry Paulson
Vikram Shakkottai
view full author information

Available tests

54 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (54 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AT3, ATX3, JOS, MJD, MJD1, SCA3, ATXN3
    Summary: ataxin 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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