Home > Encyclopedia of Neurological Disorders > Machado-Joseph Disease

Definition

Machado-Joseph disease (MJD), also known as spin-ocerebellar ataxia Type 3 (SCA 3), is a rare hereditary disorder affecting the central nervous system, especially the areas responsible for movement coordination of limbs, facial muscles, and eyes. The disease involves the slow and progressive degeneration of brain areas involved in motor coordination, such as the cerebellar, extrapyramidal, pyramidal, and motor areas. Ultimately, MJD leads to paralysis or a crippling condition, although intellectual functions usually remain normal. Other names of MJD are Portuguese-Azorean disease, Joseph disease, Azorean disease.

Description

Machado-Joseph disease was first described in 1972 among the descendants of Portuguese-Azorean immigrants to the United States, including the family of William Machado. In spite of...