{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T02:49:55Z","timestamp":1771296595240,"version":"3.50.1"},"reference-count":40,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,3]]},"abstract":"<jats:p>The reproductive history of 177 male patients affected with Becker (BMD) (n=69), limb-girdle (LGMD) (n=54), and facioscapulohumeral (FSHMD) (n=54) muscular dystrophy (MD) was analysed according to severity of the disease (BMD&gt;LGMD&gt;FSHMD) and magnitude of recurrence risk (RR) (high for FSHMD, intermediate for BMD, and low for LGMD). Additionally, 62 male patients were interviewed on psychosocial issues, in order to disentangle the factors influencing reproductive decisions among patients affected with MD. Among male adults, significantly more FSHMD than LGMD or BMD patients were married and had children. Age specific reproductive outcome was 0.31-0.32 for BMD, 0.51-0.62 for LGMD, and 0.58-1.02 for FSHMD, reflecting the influence of the disease's severity. High RRs did not significantly diminish reproduction after genetic counselling or correlate with less prospective desire for children. Instead, early onset, severity of the disease, and past reproductive history were found to diminish reproductive outcome after genetic counselling, and prospective family planning was also found to be influenced by past reproductive history as well as by emotional\/sexual dysfunction with the opposite sex.<\/jats:p>","DOI":"10.1136\/jmg.35.3.189","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"189-195","source":"Crossref","is-referenced-by-count":5,"title":["How the magnitude of clinical severity and recurrence risk affects reproductive decisions in adult males with different forms of progressive muscular dystrophy."],"prefix":"10.1136","volume":"35","author":[{"given":"S","family":"Eggers","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Zatz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/322073a0","article-title":"Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy","volume":"322","author":"Kunkel, L.M.; Hejtmancik, J.F.; Caskey, C.T.","year":"1986","unstructured":"Kunkel LM, Hejtmancik JF, Caskey CT, et al. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 1986;322:73-7.","journal-title":"Nature"},{"key":"ref_2","first-page":"125","article-title":"Westernblot using monoclonal antibody","volume":"94","author":"Nicholson, G.A.; Davidson, K.; Falkous, G.","year":"1989","unstructured":"Nicholson GA, Davidson K, Falkous G, et al. Dystrophin in skeletal muscle. I. Westernblot using monoclonal antibody. Neurol Sci 1989;94:125-36.","journal-title":"Neurol Sci"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1007\/BF00294640","article-title":"Heterogeneity of dystrophin expression in patients with Duchenne muscular dystrophy","volume":"80","author":"Nicholson, G.A.; Johnson, M.A.; Gardner-Medwin, D.; Bhattacharya, S.; Harris, J.B.","year":"1990","unstructured":"Nicholson GA, Johnson MA, Gardner-Medwin D, Bhattacharya S, Harris JB. Heterogeneity of dystrophin expression in patients with Duchenne muscular dystrophy. Acta Neuropathol 1990;80:239-50.","journal-title":"Acta Neuropathol"},{"key":"ref_4","first-page":"141","article-title":"A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage","volume":"312","author":"Beckmann, J.S.; Richard, I.; Hillaire, D.","year":"1991","unstructured":"Beckmann JS, Richard I, Hillaire D, et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. CR Acad Sci III 1991; 312:141-8.","journal-title":"CR Acad Sci III"},{"key":"ref_5","first-page":"315","article-title":"Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q","volume-title":"Nat Genet","volume":"2","author":"Othmane, B.; Hamida, B.M.; Pericak-Vance, M.","year":"1992","unstructured":"Othmane B, Hamida BM, Pericak-Vance M, et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet 1992;2:315-17."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1093\/hmg\/3.3.455","article-title":"A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p","volume":"3","author":"Bashir, R.; Strachan, T.; Keers, S.","year":"1994","unstructured":"Bashir R, Strachan T, Keers S, et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet 1994;3:455-7.","journal-title":"Hum Mol Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1016\/0092-8674(94)90527-4","article-title":"Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy","volume":"78","author":"Roberds, S.T.; Leurdq, F.; Allamand, V.","year":"1994","unstructured":"Roberds ST, Leurdq F, Allamand V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994;78:625-33.","journal-title":"Cell"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1038\/ng1195-266","article-title":"i-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex","volume":"11","author":"Bonnemann, C.G.; Modi, R.; Nogushi, S.","year":"1995","unstructured":"Bonnemann CG, Modi R, Nogushi S, et al.,i-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 1995;11:266-70.","journal-title":"Nat Genet"},{"key":"ref_9","first-page":"257","article-title":"fJ-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4ql2","volume-title":"Nat Genet","volume":"11","author":"true","year":"1995","unstructured":"Lim LE, Duclos F, Broux 0, et al. fJ-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4ql2. Nat Genet 1995;11:257-64."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1093\/hmg\/5.6.815","article-title":"Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD","volume":"5","author":"Passos-Bueno, M.R.; Moreira, E.S.; Vainzof, M.; Zatz, M.","year":"1996","unstructured":"Passos-Bueno MR, Moreira ES, Vainzof M, Zatz M. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet 1996;5:815-20.","journal-title":"Hum Mol Genet"},{"key":"ref_11","first-page":"411","article-title":"Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter","volume":"51","author":"Wijmenga, C.; Sandkuijl, L.A.; Moerer, P.","year":"1992","unstructured":"Wijmenga C, Sandkuijl LA, Moerer P, et al. Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter. Am Hum Genet 1992;51:411-15.","journal-title":"Am Hum Genet"},{"key":"ref_12","article-title":"Facioscapulohumeral disease","author":"Padberg, G.","year":"1982","unstructured":"Padberg G. Facioscapulohumeral disease. PhD thesis, University of Leiden, The Netherlands, 1982."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1111\/j.1399-0004.1979.tb00827.x","article-title":"Impact of genetic counselling: a review of follow-up studies","volume":"15","author":"Evers-Kiebooms, G.; Van Der Berghe, H.","year":"1979","unstructured":"Evers-Kiebooms G, Van Der Berghe H. Impact of genetic counselling: a review of follow-up studies. Clin Genet 1979; 15:465-74.","journal-title":"Clin Genet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1002\/ajmg.1320340310","article-title":"The effects of diagnostic uncertainty and available options on perceptions of risk. Psychological aspects of genetic counselling. VI. A critical review of the literature dealing with education and reproduction","volume":"34","author":"Black, R.B.","year":"1989","unstructured":"Black RB. The effects of diagnostic uncertainty and available options on perceptions of risk. Psychological aspects of genetic counselling. VI. A critical review of the literature dealing with education and reproduction. Am Med Genet 1989;34:340-53.","journal-title":"Am Med Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1399-0004.1980.tb00106.x","article-title":"Analysis of a follow up study of genetic counselling","volume":"17","author":"Abramovsky, I.; Godmillow, L.; Hirschhorn, K.; Smith, H.","year":"1980","unstructured":"Abramovsky I, Godmillow L, Hirschhorn K, Smith H. Analysis of a follow up study of genetic counselling. Clin Genet 1980;17:1-12.","journal-title":"Clin Genet"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1002\/ajmg.1320150314","article-title":"Effects of genetic counselling on Duchenne muscular dystrophy families in","volume":"15","author":"Zatz, M.","year":"1983","unstructured":"Zatz M. Effects of genetic counselling on Duchenne muscular dystrophy families in Brazil. Am Med Genet 1983;15:483-90.","journal-title":"Brazil. Am Med Genet"},{"key":"ref_17","first-page":"340","article-title":"Statistical analysis of genetic counselling impacts: a critical review of the literature dealing with education and reproduction","volume":"34","author":"Sissine, F.L.; Rosser, L.; Steele, M.W.; Marchese, S.; Garner, K.L.; Berman, N.","year":"1981","unstructured":"Sissine FL, Rosser L, Steele MW, Marchese S, Garner KL, Berman N. Statistical analysis of genetic counselling impacts: a critical review of the literature dealing with education and reproduction. Am Hum Genet 1981;34:340-53.","journal-title":"Am Hum Genet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1111\/j.1399-0004.1986.tb01917.x","article-title":"JR Client reactions to genetic counseling: self-reports of influence","volume":"30","author":"Wertz, D.C.; Sorenson","year":"1986","unstructured":"Wertz DC, Sorenson JR Client reactions to genetic counseling: self-reports of influence. Clin Genet 1986;30: 494-502.","journal-title":"Clin Genet"},{"key":"ref_19","first-page":"549","article-title":"Reproductive plans of genetic counselling clients not eligible for prenatal diagnosis","volume":"28","author":"Sorenson, JR, Scoutch; NA, Swazey; JP, Wertz; DC, Heeren; T.C.","year":"1987","unstructured":"Sorenson JR, Scoutch NA, Swazey JP, Wertz DC, Heeren TC. Reproductive plans of genetic counselling clients not eligible for prenatal diagnosis. Am J7 Med Genet 1987;28: 549-55.","journal-title":"Am J7 Med Genet"},{"key":"ref_20","first-page":"340","article-title":"Impact of genetic counselling and prenatal diagnosis of Down syndrome and neural tube defects. Psychosocial aspects of genetic counselling. VI. A critical review of the literature dealing with education and reproduction","volume":"34","author":"Swerts, A.","year":"1989","unstructured":"Swerts A. Impact of genetic counselling and prenatal diagnosis of Down syndrome and neural tube defects. Psychosocial aspects of genetic counselling. VI. A critical review of the literature dealing with education and reproduction. Am Hum Genet 1989;34:340-53.","journal-title":"Am Hum Genet"},{"key":"ref_21","first-page":"340","article-title":"Psychosocial aspects of genetic counselling. VI. A critical review of the literature dealing with education and reproduction","volume":"34","author":"Kessler, S.","year":"1989","unstructured":"Kessler S. Psychosocial aspects of genetic counselling. VI. A critical review of the literature dealing with education and reproduction. Am Hum Genet 1989;34:340-53.","journal-title":"Am Hum Genet"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1002\/ajmg.1320350412","article-title":"Model identifying the reproductive decision after genetic counselling","volume":"35","author":"Frets, P.G.; Duivenvoorden, H.J.; Verhage, F.; Ketzer, E.; Niermeijer, M.F.","year":"1990","unstructured":"Frets PG, Duivenvoorden HJ, Verhage F, Ketzer E, Niermeijer MF. Model identifying the reproductive decision after genetic counselling. Am Med Genet 1990;35: 503-9.","journal-title":"Am Med Genet"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1002\/ajmg.1320350411","article-title":"Factors influencing the reproductive decision after genetic counselling","volume":"35","author":"Frets, P.G.; Duivenvorden, H.J.; Verhage, F.","year":"1990","unstructured":"Frets PG, Duivenvorden HJ, Verhage F, et al. Factors influencing the reproductive decision after genetic counselling. Am JMed Genet 1990;35:496-502.","journal-title":"Am JMed Genet"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1002\/ajmg.1320400310","article-title":"Characteristics of the postcounselling reproductive decision-making process: an explorative study","volume":"40","author":"Frets, P.G.; Verhage, F.; Martinus, F.","year":"1991","unstructured":"Frets PG, Verhage F, Martinus F. Characteristics of the postcounselling reproductive decision-making process: an explorative study. Am Med Genet 1991;40:298-30.","journal-title":"Am Med Genet"},{"key":"ref_25","article-title":"Brasileiro de Geografia e Estatistica). Censo Demogr4fico do Municipio de Sao Paulo","author":"(Instituto, IBGE","year":"1980","unstructured":"IBGE (Instituto Brasileiro de Geografia e Estatistica). Censo Demogr4fico do Municipio de Sao Paulo, 1980."},{"key":"ref_26","first-page":"150","article-title":"A study of contractures in muscular dystrophies","volume":"40","author":"Archibald, K.C.; Vignos, P.J.","year":"1959","unstructured":"Archibald KC, Vignos PJ. A study of contractures in muscular dystrophies. Arch Phys Med Rehab 1959;40:150-7.","journal-title":"Arch Phys Med Rehab"},{"key":"ref_27","first-page":"91","article-title":"Clinical investigation in Duchenne dystrophy. 2. Determination of the \"power\" of therapeutic trials based on the natural history","volume":"6","author":"Brooke, M.H.; Fenichel, G.; Griggs, R.C.","year":"1983","unstructured":"Brooke MH, Fenichel G, Griggs RC, et al. Clinical investigation in Duchenne dystrophy. 2. Determination of the \"power\" of therapeutic trials based on the natural history. MuscleNerve 1983;6:91-103.","journal-title":"MuscleNerve"},{"key":"ref_28","article-title":"Reproductive pasts, reproductive futures. Genetic counselling and effectiveness","author":"Sorenson, JR, Swazey; JP, Scoutch; N.A.","year":"1981","unstructured":"Sorenson JR, Swazey JP, Scoutch NA. Reproductive pasts, reproductive futures. Genetic counselling and effectiveness. New York: Alan R Liss, 1981."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1111\/j.1399-0004.1994.tb04224.x","article-title":"The influence of genetic counselling in the area of DNA testing on knowledge, reproductive intentions and psychological wellbeing","volume":"46","author":"Rona, R.J.; Beech, R.; Mandalia, S.","year":"1994","unstructured":"Rona RJ, Beech R, Mandalia S, et al. The influence of genetic counselling in the area of DNA testing on knowledge, reproductive intentions and psychological wellbeing. Clin Genet 1994;46:198-204.","journal-title":"Clin Genet"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1136\/jmg.30.7.589","article-title":"Facioscapulohumeral Jf muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness","volume":"30","author":"Eggers, S.; Passos-Bueno, M.R.; Zatz, M.","year":"1993","unstructured":"Eggers S, Passos-Bueno MR, Zatz M. Facioscapulohumeral Jf muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness. Med Genet 1993;30:589-92. Kessler S.","journal-title":"Med Genet"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1136\/jmg.33.9.737","article-title":"Prediction of psychological functioning one year after predictive test for Huntington's disease and impact of the test result on reproductive decision making","volume":"33","author":"Decruyenaere, M.; Evers-Kiebooms, G.; Boogaerts, A.","year":"1996","unstructured":"Decruyenaere M, Evers-Kiebooms G, Boogaerts A, et al. Prediction of psychological functioning one year after predictive test for Huntington's disease and impact of the test result on reproductive decision making. J7 Med Genet 1996; 33:737-43.","journal-title":"J7 Med Genet"},{"key":"ref_32","first-page":"289","article-title":"Ways of announcing a late-onset, heritable, disabling disease and their psychological consequences","volume":"7","author":"Delaporte, C.","year":"1996","unstructured":"Delaporte C. Ways of announcing a late-onset, heritable, disabling disease and their psychological consequences. Genet Couns 1996;7:289-96.","journal-title":"Genet Couns"},{"key":"ref_33","first-page":"99","article-title":"High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families","volume":"56","author":"Zatz, M.; Marie, S.K.; Passos-Bueno, M.R.","year":"1995","unstructured":"Zatz M, Marie SK, Passos-Bueno MR, et al. High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Am YHum Genet 1995;56:99-105.","journal-title":"Am YHum Genet"},{"key":"ref_34","first-page":"744","article-title":"evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy","volume":"39","author":"Tawil, R.; Forrester, J.; Griggs, R.C.","year":"1996","unstructured":"Tawil R, Forrester J, Griggs RC, et al. The FSH-DY groups (1996) evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. Ann Neurol 1996;39:744-8.","journal-title":"The FSH-DY groups"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1002\/ajmg.1320600106","article-title":"Why is the reproductive performance lower in Becker (BMD) girdle (LGMD) muscular dystrophy masalceomppataireentds?toAlmimJb","volume":"60","author":"Eggers, S.; Lauriano, V.; Melo, M.","year":"1995","unstructured":"Eggers S, Lauriano V, Melo M, et al. Why is the reproductive performance lower in Becker (BMD) girdle (LGMD) muscular dystrophy masalceomppataireentds?toAlmimJb Med Genet (Neuropsych Genet) 1995;60:27-32.","journal-title":"Med Genet (Neuropsych Genet)"},{"key":"ref_36","first-page":"169","article-title":"Anticipated uptake and impact of genetic testing in hereditary breast and ovarian cancer families","volume":"4","author":"Struewing, J.P.; Lerman, C.; Kase, R.G.; Giambarresi, T.R.; Tucker, M.A.","year":"1995","unstructured":"Struewing JP, Lerman C, Kase RG, Giambarresi TR, Tucker MA. Anticipated uptake and impact of genetic testing in hereditary breast and ovarian cancer families. Cancer Epidemiol Biomarkers Prev 1995;4:169-73.","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"ref_37","first-page":"592","article-title":"Attitudes of genetic counselors: a multinational survey","volume":"42","author":"Wertz, D.C.; Fletcher, J.C.","year":"1988","unstructured":"Wertz DC, Fletcher JC. Attitudes of genetic counselors: a multinational survey. AmJHum Genet 1988;42:592-600.","journal-title":"AmJHum Genet"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1080\/08870448908400365","article-title":"Perception of risk in genetic counseling","volume":"3","author":"Shiloh, S.; Saxe, L.","year":"1989","unstructured":"Shiloh S, Saxe L. Perception of risk in genetic counseling. Psychol Health 1989;3:45-61.","journal-title":"Psychol Health"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1002\/ajmg.1320370419","article-title":"Satisfaction with genetic counselling. Dimensions and measurement","volume":"37","year":"1990","unstructured":"Shiloh S, Avdor 0, Goodman RM. Satisfaction with genetic counselling. Dimensions and measurement. Am J Med Genet 1990;37:522-9.","journal-title":"Am J Med Genet"},{"key":"ref_40","doi-asserted-by":"crossref","DOI":"10.1017\/CBO9780511570049.005","article-title":"Decision-making in the context of genetic risk","volume-title":"The troubled helix. Social and psychological implications of the new human genetics","author":"Shiloh, S.","year":"1996","unstructured":"Shiloh S. Decision-making in the context of genetic risk. In: Marteau T, Richards M, eds. The troubled helix. Social and psychological implications of the new human genetics. Cambridge: Cambridge University Press, 1996."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.35.3.189","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:25:53Z","timestamp":1760732753000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.35.3.189"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,3]]},"references-count":40,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1998,3,1]]},"published-print":{"date-parts":[[1998,3]]}},"alternative-id":["10.1136\/jmg.35.3.189"],"URL":"https:\/\/doi.org\/10.1136\/jmg.35.3.189","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,3]]}}}