Machado-Joseph disease in a Sicilian-American family.

Machado-Joseph disease (MJD) is an autosomal dominant motor system degeneration which was originally described in Portuguese-American families. Large pedigrees have been found on the east and west coasts of the United States in which 4 main syndromes are described. Type I disease presents with pyramidal and extrapyramidal findings usually in individuals in the second or third decades of life.

Linear skin atrophy, scarring alopecia, anonychia, and tongue lesion: a "new" syndrome?

One of a pair of female monozygotic twins showed skin atrophy with linear alternation of depressed scarlike areas and intervening ridges of normal or nearly normal skin. She was born with friable skin and a vesicular-bullous eruption which was followed by gradual scabbing. Hypohidrosis in the affected areas, heat intolerance, and febrile convulsions were noted in infancy and childhood.

Machado-Joseph disease in an American-Italian family.

An American-Italian family is described as affected by an autosomal dominant inherited ataxia which meets the clinical diagnostic criteria for Machado-Joseph disease. This disorder no longer appears to be limited to individuals of known Portuguese ancestry.