diagnostic problems of neuromuscular disease in genetic consultation

more often patients refer for genetic counseling, without definite diagnosis. mostly people and some doctor! have the impression the all muscular dystrophy affected by boys but is carried by girles. more often review of medical history of theses patients resolved this finding different clinical (neurologists), physiotherapist (ncv,emg) and pathologists diagnosis and also negative result molecular assessment for sma, dmd, dmb the most important diagnostic problem of n.m.d are extensive category and different subtypes of n.m.d extensive clinical presentation of n.m.d (wide variation of phenotype and genotype) weakly team work (medical, genetic specialist with genetic counsultation center).weak relationship and no specialist work and no web work of molecular genetic center in iran absence or weakly supportive of insurance and other supportive organization and n.g.o. attention to above problem neuromuscular patients refer to genetic consultation center, where as no definite diagnosis. the first task in genetic counseling is thus to establish the precisdiagnosis. at this time, based on type of genetic counseling following recommendation prescribed: routine lab torch study, hb electrophoresis and cpk. pmc (pre marriage consultation unconsanguinus marriage. pcc (pre pregnancy.c) new reproduction technology (egovum,fetus,sperm donor) pnc (prenatal consultation), fetal sex determination for x.lincked inheritancy diseases.