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Machado-joseph disease
autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has material basis in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene
Pronunciation
/məˈʧɑdoʊ - ˈʤoʊsəf dəˈziz/
Categories
Huntington's disease-like syndrome
spinocerebellar ataxia
rare disease