Svensk definition
En heterogen grupp ärftliga sjukdomar som kännetecknas av kloniska muskelkramper, toniska-kloniska kramper, ataxi, tilltagande intellektuell försämring och degenerering av nervceller. Hit hör Laforas sjukdom, Merrfs syndrom, neuronal ceroidlipofuscinoses, sialidos och Unverricht-Lundborgs syndrom.
Engelsk definition
A heterogeneous group of primarily familial EPILEPSY disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.
Svenska synonymer
May-Whites syndrom — Dentatorubral pallidoluysisk atrofi — Naito – Oyanagis sjukdom — Haw Rivers syndrom — Biotin-responsiv encefalopati
Engelska synonymer
Epilepsies, Progressive Myoclonic — Epilepsy, Progressive Myoclonic — Progressive Myoclonic Epilepsies — Progressive Myoclonic Epilepsy — Myoclonic Epilepsy, Progressive — Progressive Myoclonus Epilepsies — Epilepsies, Progressive Myoclonus — Epilepsy, Progressive Myoclonus — Myoclonus Epilepsies, Progressive — Progressive Myoclonus Epilepsy — Atypical Inclusion-Body Disease — Atypical Inclusion Body Disease — Atypical Inclusion-Body Diseases — Inclusion-Body Disease, Atypical — Inclusion-Body Diseases, Atypical — May-White Syndrome — May White Syndrome — Dentatorubral-Pallidoluysian Atrophy — Atrophies, Dentatorubral-Pallidoluysian — Atrophy, Dentatorubral-Pallidoluysian — Dentatorubral Pallidoluysian Atrophy — Dentatorubral-Pallidoluysian Atrophies — Naito-Oyanagi Disease — Naito-Oyanagi Diseases — Haw River Syndrome — Haw River Syndromes — River Syndromes, Haw — Naito Oyanagi Disease — Ataxia, Chorea, Seizures, And Dementia — Familial Progressive Myoclonic Epilepsy — Action Myoclonus-Renal Failure Syndrome — Action Myoclonus Renal Failure Syndrome — Myoclonus-Nephropathy Syndrome — Myoclonus Nephropathy Syndrome — Myoclonus-Nephropathy Syndromes — Syndromes, Myoclonus-Nephropathy — Biotin-Responsive Encephalopathy — Biotin Responsive Encephalopathy — Biotin-Responsive Encephalopathies — Encephalopathies, Biotin-Responsive — Encephalopathy, Biotin-Responsive