Klinische FragestellungParoxysmale nicht-kinesiogene Dyskinesie, Differentialdiagnose

NGS +

• Alias: Familial Paroxysmal Nonkinesigenic Dyskinesia
• Alias: Paroxysmal Dystonic Choreoathetosis
• Alias: Paroxysmal Nonkinesigenic Dyskinesia
• Alias: Paroxysmale nicht-kinesiogene Choreoathetose
• Alias: Paroxystic non-kinesigenic choreoathetosis
• Allelic: Deafness, AD 65 (TBC1D24)
• Allelic: Deafness, AR 86 (TBC1D24)
• Allelic: Fetal akinesia, respiratory insuff., microcephaly, polymicrogyria, dysmorphic face (ATP1A)
• Allelic: Nicotine addiction, susceptibility to (CHRNA4)
• Alternating hemiplegia of childhood 1 (ATP1A2)
• Alternating hemiplegia of childhood 2 (ATP1A3)
• Basal ganglia calcification, idiopathic, 1 (SLC20A2)
• CAPOS syndrome (ATP1A3)
• Cerebellar atrophy, developmental delay + seizures (KCNMA1)
• Charcot-Marie-Tooth disease, XLD, 6 (PDK3)
• Chorea, hereditary benign (NKX2-1)
• Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
• Cognitive impairment with/-out cerebellar ataxia (SCN8A)
• Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
• DOORS syndrome (TBC1D24)
• Developmental + epileptic encephalopathy 13 (SCN8A)
• Developmental + epileptic encephalopathy 16 (TBC1D24)
• Developmental + epileptic encephalopathy 17 (GNAO1)
• Developmental + epileptic encephalopathy 42 (CACNA1A)
• Developmental + epileptic encephalopathy 64 (RHOBTB2)
• Developmental + epileptic encephalopathy 98 (ATP1A2)
• Dihydrolipoamide dehydrogenase deficiency (DLD)
• Dyskinesia, familial, with facial myokymia (ADCY5)
• Dystonia 9 (SLC2A1)
• Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
• Dystonia-12 (ATP1A3)
• Epilepsy, familial focal, with variable foci 1 (DEPDC5)
• Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
• Epilepsy, idiopathic generalized, susceptibility to, 16 (KCNMA1)
• Epilepsy, nocturnal frontal lobe, 1 (CHRNA4)
• Epilepsy, nocturnal frontal lobe, 3 (CHRNB2)
• Epilepsy, nocturnal frontal lobe, type 4 (CHRNA2)
• Epilepsy, rolandic, with proxysmal exercise-induce dystonia + writer's cramp (TBC1D24)
• Episodic ataxia, type 2 (CACNA1A)
• Episodic kinesigenic dyskinesia 1 (PRRT2)
• GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
• GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
• Glycine encephalopathy (GLDC)
• Hyperglycinemia, lactic acidosis + seizures (LIAS)
• Hyperphenylalaninemia, BH4-deficient, B (GCH1)
• Intellectual developmental disorder with paroxysmal dyskinesia or seizures (PDE2A)
• Lacticacidemia due to PDX1 deficiency (PDHX)
• Liang-Wang syndrome (KCNMA1)
• Migraine, familial basilar (ATP1A2)
• Migraine, familial hemiplegic, 1 (CACNA1A)
• Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
• Migraine, familial hemiplegic, 2 (ATP1A2)
• Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1)
• Myoclonic epilepsy, infantile, familial (TBC1D24)
• Myoclonus, familial, 2 (SCN8A)
• Neurodevelopmental disorder with involuntary movements (GNAO1)
• Parkinson disease, juvenile, type 2 (PRKN)
• Paroxysmal nonkinesigenic dyskinesia 1 (PNKD)
• Paroxysmal nonkinesigenic dyskinesia, 3, with/-out generalized epilepsy (KCNMA1)
• Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
• Pyruvate dehydrogenase E1-beta deficiency (PDHB)
• Pyruvate dehydrogenase E2 deficiency (DLAT)
• Pyruvate dehydrogenase phosphatase deficiency (PDP1)
• Seizures, benign familial infantile, 2 (PRRT2)
• Seizures, benign familial infantile, 5 (SCN8A)
• Spinocerebellar ataxia 27 (FGF14)
• Spinocerebellar ataxia 6 (CACNA1A)
• Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)