The question of whether a fetus carrying the GAG deletion on the @entity7922 gene responsible for @entity39617 should be aborted is frequently raised. The objective of this study was to characterize the clinical spectrum and natural course of @entity39617 in Israel. Thirty-three @entity1 (19 male) with genetically confirmed @entity39617 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 @entity1 (63.6%) have progressed into generalized @entity3519 . Five @entity1 (15%) are wheelchair bound and three (9%) are using walking aids. All @entity1 have normal cognitive function. @entity1772 , @entity20286 , and botulinum toxin were the drugs used. Nine @entity1 (one @entity1 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 @entity1 with @entity39617 to have independence and a relatively good quality of life.

Natural history of XXXX ( @entity7922 ) in Israel.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity20286 :: ('MESH:D014282', 'Chemical') :: ['trihexyphenidyl'] @entity3519 :: ('MESH:D004421', 'Disease') :: ['dystonia'] @entity1772 :: ('MESH:D001418', 'Chemical') :: ['Baclofen'] @entity39617 :: ('MESH:C538005', 'Disease') :: ["Oppenheim's dystonia"] @entity7922 :: ('1861', 'Gene') :: ['DYT1']
@entity39617 :: (MESH:C538005,Disease) :: ['Oppenheim's dystonia']
