Genes, RecessiveMuscular Atrophy, SpinalConsanguinityMicrocephalySpinal Muscular Atrophies of ChildhoodSyndromePedigreeAbnormalities, MultipleSurvival of Motor Neuron 1 ProteinAtrophyMutationSMN Complex ProteinsMuscular AtrophySurvival of Motor Neuron 2 ProteinSpinal CordHomozygoteChromosome MappingPhenotypeMuscular Disorders, AtrophicBulbo-Spinal Atrophy, X-LinkedNeuronal Apoptosis-Inhibitory ProteinSpinal Cord InjuriesCyclic AMP Response Element-Binding ProteinMotor NeuronsAnterior Horn CellsRNA-Binding ProteinsNerve Tissue ProteinsOptic AtrophyExonsPolycystic Kidney, Autosomal RecessiveSpinal Cord DiseasesGenetic LinkageMotor Neuron DiseaseDNA Mutational AnalysisChromosomes, Human, Pair 5Ribonucleoproteins, Small NuclearDisease Models, AnimalMutation, MissenseDEAD Box Protein 20Heterozygote DetectionHeterozygoteSpinal Nerve RootsInjections, SpinalMolecular Sequence DataRetinitis PigmentosaGenes, DominantCharcot-Marie-Tooth DiseaseLod ScoreSpinal NervesBase SequenceCoiled BodiesMultiple System AtrophyAnesthesia, SpinalMuscle, SkeletalArthrogryposisReceptors, AndrogensnRNP Core ProteinsMuscular DystrophiesSpinal Cord NeoplasmsSpinal CanalAllelesBulbar Palsy, ProgressiveFounder EffectSpinal DiseasesSpinal Cord CompressionGene DeletionMice, TransgenicGenotypeIchthyosisHaplotypesGenetic TestingHypotrichosisSpinal NeoplasmsMagnetic Resonance ImagingOlivopontocerebellar AtrophiesCodon, NonsenseNeuromuscular DiseasesNerve DegenerationContractureMuscle WeaknessAmino Acid SequenceElectromyographyGenetic MarkersCerebellar AtaxiaAge of OnsetSpinal StenosisIchthyosiform Erythroderma, CongenitalGyrate AtrophyRNA SplicingSpinal FusionAxonsFrameshift MutationPolymerase Chain ReactionIntellectual DisabilityFamily HealthPolymorphism, Single-Stranded ConformationalNeural ConductionPrenatal DiagnosisSural NervePakistan