Abstract
BackgroundNorth Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myoclonus epilepsies, the efficacy of antiepileptic drugs is disappointingly limited in North Sea Progressive Myoclonus Epilepsy. The ketogenic diet and the less restrictive modified Atkins diet have been proven to be effective in other drug-resistant epilepsy syndromes, including those with myoclonic seizures. Our aim was to evaluate the efficacy of the modified Atkins diet in patients with North Sea Progressive Myoclonus Epilepsy.ResultsFour North Sea Progressive Myoclonus Epilepsy patients (aged 7–20 years) participated in an observational, prospective, open-label study on the efficacy of the modified Atkins diet. Several clinical parameters were assessed at baseline and again after participants had been on the diet for 3 months. The primary outcome measure was health-related quality of life, with seizure frequency and blinded rated myoclonus severity as secondary outcome measures.Ketosis was achieved within 2 weeks and all patients completed the 3 months on the modified Atkins diet. The diet was well tolerated by all four patients. Health-related quality of life improved considerably in one patient and showed sustained improvement during long-term follow-up, despite the progressive nature of the disorder. Health-related quality of life remained broadly unchanged in the other three patients and they did not continue the diet. Seizure frequency remained stable and blinded rating of their myoclonus showed improvement, albeit modest, in all patients.ConclusionsThis observational, prospective study shows that some North Sea Progressive Myoclonus Epilepsy patients may benefit from the modified Atkins diet with sustained health-related quality of life improvement. Not all our patients continued on the diet, but nonetheless we show that the modified Atkins diet might be considered as a possible treatment in this devastating disorder.
Highlights
North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene
North Sea Progressive Myoclonus Epilepsy (NSPME) is a rare but devastating disorder clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia
Our aim was to evaluate the efficacy of the modified Atkins diet (MAD) in patients with NSPME by measuring health-related quality of life (HRQL) as the primary outcome
Summary
North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. North Sea Progressive Myoclonus Epilepsy (NSPME) is a rare but devastating disorder clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. Most NSPME patients have generalized tonic or tonicclonic seizures, albeit that the seizures are relatively mild compared to the myoclonic jerks. Both myoclonic jerks and seizures can be treated with anti-epileptic drugs, but the benefits are disappointingly limited. This absence of an effective treatment for NSPME served as an impetus for exploring alternative treatment options
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