Genetic counseling for the dystrophinopathies—Practice resource of the National Society of Genetic Counselors.
The dystrophinopathies encompass the phenotypically variable forms of muscular dystrophy caused by pathogenic variants in the DMD gene. The dystrophinopathies include the most common inherited muscular dystrophy among 46,XY individuals, Duchenne muscular dystrophy, as well as Becker muscular dystrop...
| Publicado en: | Journal of Genetic Counseling Vol. 34; no. 1; pp. 1 - 23 |
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| Autores principales: | , , , , , , , , , |
| Formato: | review tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
Feb2025
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=183983297&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 183983297 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10597700 41A jtl: Journal of Genetic Counseling issn: 10597700 maglogo: N pubinfo: dt: Feb2025 vid: 34 iid: 1 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 183983297 176861305 183983297 183983297 10.1002/jgc4.1892 183983297 ppf: 1 ppct: 22 formats: fmt: – @attributes: type: T – @attributes: type: C – @attributes: type: P tig: atl: Genetic counseling for the dystrophinopathies—Practice resource of the National Society of Genetic Counselors. aug: au: Pickart, Angela M. Martin, Ann S. Gross, Brianna N. Dellefave‐Castillo, Lisa M. McCallen, Leslie M. Nagaraj, Chinmayee B. Rippert, Alyssa L. Schultz, Catherine P. Ulm, Elizabeth A. Armstrong, Niki affil: Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester Minnesota,, USA sug: subj: Muscular Dystrophy, Duchenne Genetic Counseling Genetic Screening Genetic Counselors Professional Practice Information Resources Muscular Dystrophy, Duchenne Diagnosis Muscular Dystrophy, Duchenne Therapy Clinical Trials Muscular Dystrophy, Duchenne Risk Factors Muscular Dystrophy, Duchenne Complications Muscular Dystrophy, Duchenne Epidemiology Diagnosis, Laboratory Adrenal Cortex Hormones Therapeutic Use Gene Therapy ab: The dystrophinopathies encompass the phenotypically variable forms of muscular dystrophy caused by pathogenic variants in the DMD gene. The dystrophinopathies include the most common inherited muscular dystrophy among 46,XY individuals, Duchenne muscular dystrophy, as well as Becker muscular dystrophy and other less common phenotypic variants. With increased access to and utilization of genetic testing in the diagnostic and carrier setting, genetic counselors and clinicians in diverse specialty areas may care for individuals with and carriers of dystrophinopathy. This practice resource was developed as a tool for genetic counselors and other health care professionals to support counseling regarding dystrophinopathies, including diagnosis, health risks and management, psychosocial needs, reproductive options, clinical trials, and treatment. Genetic testing efforts have enabled genotype/phenotype correlation in the dystrophinopathies, but have also revealed unexpected findings, further complicating genetic counseling for this group of conditions. Additionally, the therapeutic landscape for dystrophinopathies has dramatically changed with several FDA‐approved therapeutics, an expansive research pathway, and numerous clinical trials. Genotype–phenotype correlations are especially complex and genetic counselors' unique skill sets are useful in exploring and explaining this to families. Given the recent advances in diagnostic testing and therapeutics related to dystrophinopathies, this practice resource is a timely update for genetic counselors and other healthcare professionals involved in the diagnosis and care of individuals with dystrophinopathies. pubtype: Academic Journal doctype: review tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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