Still's Disease, Adult-OnsetAge of OnsetDystonia Musculorum DeformansPedigreeDystoniaMastocytoma, SkinEpilepsy, Tonic-ClonicMorbillivirusEpilepsies, MyoclonicMuscle CrampHLA-B39 AntigenTorticollisHexosaminidase AEpilepsy, GeneralizedMyotonic DystrophySyndromePantothenate Kinase-Associated NeurodegenerationGenes, DominantMutationArthritis, JuvenileMagnetic Resonance ImagingComaAge FactorsOxazolesGenetic LinkagePhenotypeMuscular DiseasesDermatomyositisMyositisGenetic Predisposition to DiseaseHuntington DiseaseRisk FactorsFollow-Up StudiesGenotypeGenes, RecessiveBrainCase-Control StudiesPregnancyElectroencephalographySeverity of Illness IndexTomography, X-Ray ComputedTime FactorsEpigenesis, GeneticDisease Models, AnimalRetrospective StudiesDelayed DiagnosisAlzheimer DiseaseMolecular Sequence DataEarly DiagnosisCerebellar AtaxiaPrenatal DiagnosisInfant, NewbornSensitivity and SpecificityProspective StudiesOrnithine Carbamoyltransferase Deficiency DiseaseTreatment OutcomeDiagnosisAllelesBiopsyCohort StudiesOsteochondrosisPredictive Value of TestsPrognosisHeterozygote DetectionDisease ProgressionPolymerase Chain ReactionLabor OnsetSural NerveHeterozygoteIncidenceDNA Mutational AnalysisGenetic TestingMyelin P0 ProteinFatal OutcomeSpinocerebellar DegenerationsHomozygoteDiagnostic ErrorsSex FactorsApolipoproteins EAtrophySepsisCerebrospinal Fluid OtorrheaIntensive Care Units, NeonatalBiological MarkersPrevalenceCharcot-Marie-Tooth DiseaseAcute DiseaseFamily HealthReproducibility of ResultsGene FrequencyPolymorphism, GeneticLeukodystrophy, MetachromaticNeuromuscular DiseasesNeurologic ExaminationLongitudinal StudiesDiagnosis, Computer-AssistedRecurrenceFriedreich AtaxiaDiabetes Mellitus, Type 1Apolipoprotein E4