Intrafamilial variability in Machado-Joseph disease.

doi:10.1002/mds.870110625

Back to search

Article

Intrafamilial variability in Machado-Joseph disease.

Movement disorders : official journal of the Movement Disorder Society - 1 Nov 1996

Subramony S H, Currier R D

Abstract excerpt

Dominantly inherited ataxias resulting from different gene mutations are difficult to distinguish based on clinical phenotypes. We believe the phenotypic variability within families can be a clue to clinical diagnosis. We illustrate the range of phenotypes extending from levodopa-responsive extra...

Topics

Adult
Antiparkinson Agents
Carbidopa
Drug Combinations
Female
Genes, Dominant
Humans
Levodopa
Machado-Joseph Disease
Male
Neurologic Examination
Phenotype

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.