[Problems and peculiarities in establishing the genealogical findings and the genetic counseling in hereditary neuromuscular diseases].
Value and regularities of the establishment of genealogical findings and of its evaluation and the genetic counseling are of important also in the hereditary neuromuscular diseases. Moreover, in the individual clinical pictures special tasks and additional diagnostics measures are the result. On the basis of individual instances the problems of the differentiation of the heredity in heterogenia of the phenotype, of the preclinical diagnosis, of the differentiation between the risk of disease and segregation in recessive heredity and of the recognition of carriers in X-chromosomal recessive inherited defects, particularly the progressive muscle dystrophy of the Duchenne type are entered.
D000328:Adult; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D005826:Genetics, Medical; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D010375:Pedigree; D014960:X Chromosome
Einige Probleme und Besonderheiten der genealogischen Befunderhebung und genetischen Beratung bei hereditären neuromuskulären Erkrankungen.