primary cranial dystonia; idiopathic tosional dystonia

Etiology

-idiopathic

Pathology

• basal ganglia dysfunction

Genetics

• sporadic & hereditary forms
• autosomal dominant (gene localized to 9q32-34)
• X-linked recessive (gene localized to Xq21.3)

Clinical manifestations

• normal birth and development
• dystonias
• onset in childhood associated with hereditary forms
• symptoms begin in legs
• earlier onset associated with greater disability
• 1/3 of patients become chair- or bedridden
• neck, trunk, limbs & face may be involved

Differential diagnosis

• L dopa-responsive dystonia

Management

• symptomatic
• trihexyphenidyl
  • start 1-2 mg PO TID
  • 40-50 mg QD may be used
• haloperidol
• somtimes helpful
  • baclofen
  • carbamazepine
  • diazepam
• stereotactic thalamotomy may be useful if dystonia is predominantly unilateral involving the legs

More general terms

• basal ganglia disease
• dystonia