Progressieve Myoclonus Ataxie: een internationale database
Progressive myoclonus ataxia (PMA) is a rare movement disorder with childhood-onset characterized by muscle jerks (myoclonus) and impairment of coordination (ataxia). Furthermore, patients can have cognitive decline and epilepsy.
PMA can be cause by a genetic disorder (e.g. the North Sea disorder) or acquired (e.g. coeliac disease). In most cases, the underlying cause is a genetic defect; however, the exact gene cannot be identified. In the majority of patients, the disease progresses during their lifetime resulting in severe limitations in daily activities. There is no curative treatment, only symptomatic therapy for myoclonus and epilepsy are present. Due to the rarity of PMA, little is known about this combination of movement disorders and physicians find it difficult to recognize and diagnose this syndrome. As a consequence, patients have to wait long before they gain access to appropriate healthcare.
The goal of this study is to increase our knowledge regarding PMA. What are the signs and symptoms of these patients? What are the underlying causes? What is the most effective treatment strategy? We want te achieve this by creating an international database for patients with PMA and collect clinical, electrophysiological (muscle and brain activity) and genetic information.