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 a chronic progressive disease. Optimum symptomatic care requires a multidisciplinary approach involving pediatric or movement disorders neurology, ophthalmology, genetic counselling, and rehabilitation therapies. Rehabilitation therapies such as physical, speech, nutritional and occupational may help ease the symptoms of PKAN. Since issues with eating are common, some patients with PKAN are unable to take in enough calories. In such cases, a gastrostomy tube should be considered for those not able to maintain adequate diets or with frequent aspiration pneumonias.
Dystonia can worsen with anaesthesia, infections, constipation or undetected broken bones. Comprehensive whole-body examinations are important in times of extreme dystonia, sometimes called dystonic storms.
Please see the publications link for a reference to a Consensus Clinical Management Guideline for more information about care management.
PANK2