primary cranial dystonia; idiopathic tosional dystonia

Differentiate from orofacial dystonia. Etiology: -idiopathic Pathology: - basal ganglia dysfunction Genetics: 1) sporadic & hereditary forms 2) autosomal dominant (gene localized to 9q32-34) 3) X-linked recessive (gene localized to Xq21.3) Clinical manifestations: 1) normal birth and development 2) dystonias 3) onset in childhood associated with hereditary forms 4) symptoms begin in legs 5) earlier onset associated with greater disability 6) 1/3 of patients become chair- or bedridden 7) neck, trunk, limbs & face may be involved Differential diagnosis: - L dopa-responsive dystonia - orofacial dystonia Management: 1) symptomatic 2) trihexyphenidyl a) start 1-2 mg PO TID b) 40-50 mg QD may be used 3) haloperidol 4) somtimes helpful a) baclofen b) carbamazepine c) diazepam 5) stereotactic thalamotomy may be useful if dystonia is predominantly unilateral involving the legs

General

basal ganglia disease dystonia

References

Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2360