Machado-Joseph disease

Machado-Joseph's disease (MJD) is named after the first names of the first two patients (Antone Joseph and Machado), and because it is concentrated in the Azores Islands, it is also called Azorean's disease. It is an autosomal dominant hereditary nervous system degenerative disease. Machado-Joseph disease is a type of hereditary spinocerebellar ataxia (type III, SCA3). It includes cerebellar ataxia, pyramidal tract signs, abnormal myotonic and tonic extrapyramidal syndrome such as tonicity, limbs Muscle atrophy and sensory disturbance, extraocular muscle paralysis and nystagmus are characterized; autosomal dominant inheritance. This disease was first reported by Nakano (1972). It was previously considered to be a genetic disease of Portuguese origin. It has also been found in black and yellow families in recent years.

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