The question of whether a fetus carrying the GAG deletion on the
DYT1 gene responsible for
Oppenheim's dystonia should be aborted is frequently raised. The objective of this study was to characterize the clinical spectrum and natural course of
Oppenheim's dystonia in Israel. Thirty-three patients (19 male) with genetically confirmed
Oppenheim's dystonia were evaluated. The
Dystonia Rating Scale (maximum score 120) and the Disability Scale (maximum score 30) were used to score severity at the last visit. After a mean of 15.5 +/- 13.8 years of symptoms, the mean
Dystonia Rating Scale and Disability Scale scores were 22.7 +/- 14.7 and 7.7 +/- 4.3, respectively. Twenty-one patients (63.6%) have progressed into generalized
dystonia. Five patients (15%) are wheelchair bound and three (9%) are using walking
aids. All patients have normal cognitive function.
Baclofen,
trihexyphenidyl, and
botulinum toxin were the drugs used. Nine patients (one patient had both) underwent neurosurgical intervention: thalamotomy for six (two bilateral) and
pallidotomy for four (three bilateral). The bilateral
pallidotomy provided only short-term benefit. The modern treatments combining drugs,
botulinum toxin, and functional neurosurgery allow most patients with
Oppenheim's dystonia to have independence and a relatively good quality of life.