MYOCLONIC DYSTONIA SYNDROME IN CHILDREN

Аннотация

Myoclonic dystonia is a genetically heterogeneous condition that leads to impaired muscle function (myoclonic hyperkinesis), as well as dystonia of the musculature of the upper body – neck, upper limb girdle. The symptoms of this condition are sharp muscle twitches (arms, neck, occasionally legs), especially when performing subtle movements. Then dystonia joins, which can manifest itself with a torticollis and an unusual posture of the patient. The diagnosis of myoclonic dystonia is based on the data of the patient's current status and molecular genetic analysis.