Article
Machado-Joseph disease: an autosomal dominant motor system degeneration.
Movement disorders : official journal of the Movement Disorder Society - 1 Jan 1992
Rosenberg R N
Abstract excerpt
Machado-Joseph disease is an autosomal dominant spinocerebellar degeneration. It expresses itself clinically with variable expression. Type one patients have early onset with a rapid progression of symptoms including spasticity, rigidity and myokymia. Type two patients are the most common phenotype with ataxia and spasticity. Type three patients develop progressive ataxia with variable amyotrophy. All patients...
Topics
- Chromosome Aberrations
- Chromosome Disorders
- Genes, Dominant
- Genetics, Population
- Humans
- Neurologic Examination
- Olivopontocerebellar Atrophies
- Pedigree
- Phenotype
- Spinocerebellar Degenerations