Look at this patient.
· Perinatal anoxia, birth trauma or kernicterus.· Family history.· Drug history (neuroleptics).· The age of onset of clinical features (abnormal movements are usually present before the age of 5 years in birth anoxia).
· Dystonic movements of head and neck.· Torticollis.· Blepharospasm.· Facial grimacing.· Forced opening or closing of the mouth.· Limbs may adopt abnormal but characteristic postures.
This patient has torsion dystonia (lesion) which may be due to birth anoxia (aetiology), and is confined to a wheelchair because ofthe disability (functional status).
What do you understand by the term 'dystonia'?
It implies a movement caused by a prolonged muscular contraction when a part of the body is thrown into spasm.
What is the inheritance of idiopathic torsion dystonia?
Idiopathic torsion dystonia can occur sporadically, or on a hereditary basis with autosomal dominant (where the gene is onchromosome 9q), X-linked recessive orfamilies. There is a normal birth and developmental history in idiopathic torsion dystonia.
What are the other causes of dystonia?
· Birth anoxia (abnormal movements develop before the age of 5 years; often associated with a history of seizures and mentaldisability).· Wilson's disease, Huntington's disease or parkinsonism.· Drugs.
How would you treat such patients?
· Drugs: patients respond poorly to drugs. Occasionally helpful medications include diazepam, levodopa, amantadine,carbamazepine, tetrabenazine, phenothiazines and haloperidol.· Stereotactic thalamotomy may be useful in predominantly unilateral dystonia.