Management

Currently, there are no disease-modifying therapies for PKAN, although there are some in development or early clinical trials.  Treatment is symptomatic, and ongoing care should follow general recommendations for people with chronic progressive disease.  Optimum symptomatic care requires a multidisciplinary approach involving pediatric or movement disorders neurology, ophthalmology, genetic counselling, and rehabilitation therapies.  Pharmacologic treatments most often used to manage dystonia and spasticity are anticholinergics and benzodiazepines such as trihexyphenidyl, clonazepam and baclofen.  For focal dystonia, botulinum toxin injections may be of episodic use.

Feeding difficulties are common in PKAN.  A gastrostomy tube should be considered for those not able to maintain adequate diets or with frequent aspiration pneumonias.  

Dystonia relief may be found with deep brain stimulation in a select population of patients.  It is more likely to be of help for those with the atypical form of the disease and is usually short-lived.  

Caution should be used with any procedure involving anaesthesia.  Post-operative pain and dystonia management are critical as anaesthesia may induce an acute exacerbation of dystonia in PKAN patients.  In addition, exacerbations of dystonia may occur as a result of infections, constipation or pain from an unrecognized broken bone.  Status dystonicus demands comprehensive surveillance of all body systems.