Eight years' experience of direct molecular testing for myotonic dystrophy in Wales

Fokstuen, Siv

doi:10.1136/jmg.38.12.e42

Cited by 7 publications

(3 citation statements)

References 20 publications

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“…Previous family studies have clearly shown that a considerable proportion of asymptomatic family members show definite clinical abnormalities on examination (17.6% in one early study) 8. In the present study, some clinical abnormalities were present in nine of the 16 cases with an abnormal presymptomatic test result, in the total series of 78 cases (see accompanying paper5 for details). By contrast, the likelihood of an abnormal genetic test result in a carefully examined and clinically normal adult is low (around 8% in the studies discussed above).…”

Section: Discussionsupporting

confidence: 53%

“…The laboratory methods used and the overall composition and outcomes of the series are described in the accompanying paper 5. For the purpose of the present study, we only included the 72 subjects seen for presymptomatic testing by 11 different clinical geneticists providing the clinical genetics service for Wales over this eight year period, based in the Institute of Medical Genetics, Cardiff, the remaining six samples having been received from neurologists and paediatricians.…”

Section: Methodsmentioning

confidence: 99%

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Presymptomatic testing in myotonic dystrophy: genetic counselling approaches

Fokstuen

2001

Journal of Medical Genetics

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Section: Discussionsupporting

confidence: 53%

Section: Methodsmentioning

confidence: 99%

Presymptomatic testing in myotonic dystrophy: genetic counselling approaches

Fokstuen

2001

Journal of Medical Genetics

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“…Congenital onset and cognitive dysfunction have only been reported in DM1 (Mankodi 2008). DM can present at all ages, however the earlier the DM symptoms appear the more multisystem involvement (Fokstuen et al 2001). …”

Section: Introductionmentioning

confidence: 99%

Understanding the Experience of Myotonic Dystrophy. Mixed Method Study

Geirdal

Lund-Petersen

Heiberg

2014

Journal of Genetic Counseling

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Myotonic Dystrophy (DM) is a progressive multi-systemic disorder characterized by myotonia and muscle weakness where currently no effective treatment or cure to prevent or delay the disorder exists. This study used mixed methods to examine the experience of living with DM, in patients and their close relatives. Thirteen patients and eight next of kin responded completing Quality of Life and Psychological distress questionnaires in this cross-sectional study, and participating in a semi-structured interview. The findings indicate a higher level of anxiety and hopelessness in next of kin compared to patients, while patients were more depressed. Next of kin reported higher physical, but lower emotional quality of life than patients. Qualitative interviews confirmed the questionnaire findings. The findings from this study may be helpful in genetic counseling. Genetic counselors and geneticists should not only be aware of the burden of being a next of kin, but include discussions about opportunities to minimize the burden in families affected with DM. The findings may be of relevance in counseling for other types of neuromuscular disorders.

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Distribution of CTG repeats at the DMPK gene in myotonic distrophy patients and healthy individuals from the Mexican population

Magaña¹,

Cortés-Reynosa²,

Escobar-Cedillo³

et al. 2010

Mol Biol Rep

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Myotonic dystrophy type 1 (DM1), the most common form of adult muscular dystrophy, is caused by anormal expansion of CTG trinucleotide repeats located in the 3'-untranslated region of the DMPK gene. The clinical features of DM1 are multisystemic and highly variable, and the unstable nature of CTG expansion causes wide genotypic and phenotypic presentations. In this study, we described to our knowledge for the first time the molecular diagnosis of myotonic dystrophy type 1 patients in the Mexican population, applying a fluorescent PCR method in combination with capillary electrophoresis analysis of the amplified products. We identified expanded alleles in 45 out of 50 patients (90%) with clinical features of myotonic disease. Furthermore, genotyping of 400 healthy subjects revealed the presence of 25 different alleles, ranging in size from 5 to 34 repeats. The most frequent allele was 13 CTG repeats (38.87%) and the frequency for alleles over 18 CTG repeats was 6.7%. Molecular test is essential for DM1 diagnosis and distribution of the CTG repeat alleles present in the Mexican population are significantly different from those of other populations.

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Eight years' experience of direct molecular testing for myotonic dystrophy in Wales

Cited by 7 publications

References 20 publications

Presymptomatic testing in myotonic dystrophy: genetic counselling approaches

Presymptomatic testing in myotonic dystrophy: genetic counselling approaches

Understanding the Experience of Myotonic Dystrophy. Mixed Method Study

Distribution of CTG repeats at the DMPK gene in myotonic distrophy patients and healthy individuals from the Mexican population

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