MANAGEMENT OF DYSTONIA

• Acute Dystonia

Benztropine 1-2mg slow IV; May repeat if needed in 20 minutes. Then 1 mg po bid orally.

Alternative:

Benadryl 1mg / kg slow IV

• Status Dystonia

Monitor for Myoglobinuria. Admit to ICU.

Versed drip:

Versed 0.2 mg / kg IV bolus followed by; Maintenance rate 0.05 mg / kg / hour infusion; Max rate 5 mg /kg / hour infusion

Tardive Dystonia

Trihexyphenidyl 1mg po bid. Escalate dose slowly over 4 weeks to upto 6mg po bid if needed

Alternatives: Clonazepam, Sinemet, Tetrabenazine

DOPA Responsive Dystonia. Starting dose of Levodopa 1 mg/kg/ day. Maintenance 4-5 mg/kg/day

Dystonia can be focal or generalized or multifocal or generalized.

First type:

DYT1 related Early onset generalized dystonia 

Rare. Caused by mutation of DYT1 gene

Posturing of a foot or arm provoked by action, such as walking or writing

Molecular genetic testing of TOR1A : 3 base pair deletion in most patients

Autosomal dominant with incomplete penetrance.

50% chance of a progency inheriting the gene, 30% chance of symptomatic disease

Second type:

Non-DYT1 related Early onset generalized dystonia

More likely to have cranial/cervical involvement compared to DYT1 type. Can be primary or secondary; Secondary means the dystonia is due to some other neurological condition.

Onset in early childhood

Inward and upward turning of feet

Spreads to upper limbs gradually

Lack of coordination when running

Mutations in GCH1 gene (GTP cytohydrolase)

Mutation in SPR gene

Autosomal dominant

Treatment

Starting dose of Levodopa 1 mg/kg/ day; Maintenance 4-5 mg/kg/day

Mostly managed with Botox injections, Blepharospasm, Torticollis, Craniofacial dystonia, Laryngeal dystonia