Objective: To report a unique hereditary, juvenile onset, craniocervical pr
edominant, generalized dystonia and parkinsonism affecting four members of
Family Description: A father and three of his four daughters presented to u
s over the past 30 years with a similar picture of generalized dystonia, st
arting in the craniocervical region in the second or third decade of life.
They later developed moderate parkinsonism, mainly manifesting bradykinesia
, rigidity and abnormal postural reflexes. Biochemical and genetic tests ex
cluded Wilson's disease, Huntington's disease and Oppenheim's dystonia.
Conclusion: This is a new type of familial dystonia-parkinsonism where the
craniocervical dystonic symptoms are most prominent in the early stages whi
le parkinsonism becomes the predominant problem later in life. A search for
the genetic mutation in this family is underway.