EpistemisDystonia
Specialty: Neurology.
Why it occurs
- Primary idiopathic dystonia (focal such as spasmodic, segmental or generalized torticollis)
- Acute dystonic reaction due to drugs (dopaminergic receptor blockers, metoclopramide, neuroleptics)
- Cerebral palsy and congenital or acquired striatal structural lesions
- Advanced Huntington's disease or Parkinson's disease
- Hereditary metabolic diseases (Wilson's disease, dopa-sensitive dystonia or DYT mutations)
Initial workup
Brain MRI to evaluate basal ganglia; determination of serum ceruloplasmin, serum copper and 24-hour urinary copper (systematic exclusion of Wilson's disease in those under 40 years of age); genetic study if hereditary dystonia is suspected; therapeutic trial with low doses of levodopa to rule out dopa-sensitive dystonia (Segawa syndrome).
red flags
Acute dystonic crisis affecting the laryngeal or pharyngeal muscles with compromise of the airway (respiratory stridor, imminent asphyxiation), or dystonic state ("status dystonicus") characterized by continuous and painful generalized spasms that cause rhabdomyolysis and acute renal failure.
Standard management
- Botulinum toxin type A — treatment of choice for focal dystonias such as spasmodic torticollis or bunting cramp
- Trihexyphenidyl — 6-30 mg/day, progressively modulating dose
- Baclofen — 10-80 mg/day
- Biperiden (2-4 mg intramuscularly or slowly intravenously, specific and highly effective in reversing the acute dystonic drug reaction).
Educational guidance for study. It is NOT a prescription recommendation. The actual choice depends on the cause, the patient, and current guidelines.
- Area
- Neurology
- Listed causes
- 5
- Treatment options
- 4