Objective:

NA

Background:

Non-epileptic myoclonus (NEM) can be difficult to treat for patients with Angelman’s Syndrome (AS). Traditional medications for AS-associated NEM include clonazepam, valproic acid, benzodiazepines, levetiracetam, and lamotrigine. While not a standard therapy, management with cannabidiol oil (CBD) was significantly efficacious in reducing NEM episodes for our patient, who did not achieve effective symptom relief with established treatments alone.

Design/Methods:

We present a 15-year-old female patient, followed in our clinic, diagnosed with Angelman Syndrome, characterized by a heterozygous UBE3A mutation in exon 16 (c.2503_2507dupCTTAA), with symptoms of loss of tone, and most notably, poorly controlled periodic episodes of NEM.

Results:

Our patient initially received standard medications for management of myoclonus, including clonazepam, but the episodes remained significantly disabling. Over several years, she failed trials of lamotrigine, valproic acid, propranolol, or gabapentin. CBD was attempted and resulted in significant improvements in the patient’s NEM, sleep, ability to walk without assistance, and overall quality of life.

Conclusions:

Management of NEM can prove challenging for many patients with AS, compounded with the social complexities associated with CBD usage. The mechanism and clinical use of CBD is still limited, however, an animal model of AS has demonstrated CBD’s efficacy in seizure management. To our knowledge, the use of CBD for myoclonus in AS has not been previously reported in the literature. However, anecdotally, parents of children with AS have described reduced symptoms with its use. Further studies could provide valuable insights into the utilization of CBD for NEM and could be considered for other Angelman Syndrome patients experiencing inadequate control of their myoclonic events.