-Onset is typically in childhood with myoclonus alone or in combination with dystonia.
-Most cases are due to inherited SGCE gene mutations
-Symptoms are very alcohol-responsive *which can lead to abuse and addiction*
-Co-morbid anxiety, depression, OCD, etc. are common
- The myoclonus preferentially affects the upper body but spreads to the lower body with action
- Zonisamide has Class I evidence for the treatment of myoclonus in MDS
- The dystonia if present preferentially affects the cervical region, lower extremities and gait, or manifests as writer’s cramp
*So always watch your patients write!* ✍️
*And ask about a family or personal h/o gait impairment, “dragging the leg,” wearing ankle braces, etc.*
If medications like zonisamide, VPA, Keppra, Benzos, anticholinergics, and botulinum toxin are not enough to control the myoclonus and dystonia, GPi DBS can help!