The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy
| Autor: | Marina A. J. Tijssen, Amerins Weijenberg, Martje E. van Egmond, Oebele F. Brouwer, Roald A. Lambrechts, Jan Willem J. Elting, Rodi Zutt, Deborah A Sival, Margreet van Rijn, Tom J. de Koning, Jeannette M. Gelauff |
|---|---|
| Přispěvatelé: | Movement Disorder (MD) |
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male Myoclonus Pediatrics medicine.medical_treatment CHILDREN 030105 genetics & heredity Modified Atkins diet law.invention Epilepsy 0302 clinical medicine Randomized controlled trial law Genetics(clinical) Pharmacology (medical) RATING-SCALE Child Genetics (clinical) Medicine(all) Electroencephalography General Medicine Ketogenic diet RANDOMIZED CONTROLLED-TRIAL Treatment Outcome medicine.symptom DEEP BRAIN-STIMULATION Quality of life medicine.medical_specialty Adolescent food.diet Progressive myoclonus epilepsy ATAXIA North Sea Progressive Myoclonus Epilepsy 03 medical and health sciences Young Adult food medicine Humans CHILDHOOD EPILEPSY Atkins diet business.industry Research GOSR2 MUTATION medicine.disease Myoclonic Epilepsies Progressive GOSR2 gene Treatment Epilepsy syndromes Ketosis business 030217 neurology & neurosurgery Diet High-Protein Low-Carbohydrate |
| Zdroj: | Orphanet journal of rare diseases, 12(45), 1-6. BMC Orphanet Journal of Rare Diseases |
| ISSN: | 1750-1172 |
| Popis: | Background: 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. 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.Results: Four 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 healthrelated 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.Conclusions: This 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. |
| Databáze: | OpenAIRE |
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