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author:("GRIMM, tiem")
1.  Risk assessment and genetic counseling in families with Duchenne muscular dystrophy 
Acta Myologica  2012;31(3):179-183.
The Duchenne Muscular dystrophy (DMD) is the most frequent muscle disorder in childhood caused by mutations in the Xlinked dystrophin gene (about 65% deletions, about 7% duplications, about 26% point mutations and about 2% unknown mutations). The clinically milder Becker muscular dystrophy (BMD) is allelic to DMD. About 33% of all patients are due to de novo mutations and germ line mosaicism is frequently observed. While in earlier studies equal mutation rates in males and females had been reported, a breakdown by mutation types can better explain the sex ratio of mutations: Point mutations and duplications arise preferentially during spermatogenesis whereas deletions mostly arise in oogenesis.
With current analytical methods, the underlying mutation can be identified in the great majority of cases and be used for carrier detection. However, in families with no mutation carrier available, the genetic model to be used for counselling of relatives can be quite complex.
PMCID: PMC3631803  PMID: 23620649
Duchenne muscular dystrophy; Becker muscular dystrophy; dystrophin gene; molecular genetic diagnosis; genetic model; germ line mosaicism
2.  Survival in Duchenne muscular dystrophy 
Acta Myologica  2012;31(2):117-120.
Objective:
To determine the survival in a population of German patients with Duchenne muscular dystrophy.
Patients and methods:
Information about 94 patients born between 1970 and 1980 was obtained by telephone interviews and questionnaires. In addition to age of death or actual age during the investigation, data concerning clinical course and medical interventions were collected.
Results:
67 patients with molecularly confirmed diagnoses had a median survival of 24.0 years. Patients without molecular confirmation (clinical diagnosis only) had a chance of 67 % to reach that age. Grouping of our patient cohort according to the year of death (before and after 2000), ventilation was recognized as main intervention affecting survival with ventilated reaching a median survival of 27.0 years. For those without ventilation it was 19.0 years.
Conclusion and clinical relevance:
our study provides survival data for a cohort of DMD patients in Germany stratified by year of death. Median survival was 24.0 years in patients confirmed by molecular testing. Ventilated patients had a median survival of 27 years. We consider this piece of information helpful in the medical care of DMD patients.
PMCID: PMC3476855  PMID: 23097602
duchenne muscular dystrophy; survival; ventilation

Results 1-2 (2)