Prevalence of myotonic dystrophy in Guipúzcoa (Basque Country, Spain)

Abstract

Prevalence figures for inherited neuromuscular disorders are important both for health care planning purposes and for evaluating the need for DNA diagnostic services for eugenic approaches. We screened for the prevalence of myotonic dystrophy (MyD) through extensive inquiry of neurologic and primary health services of Guipúzcoa (Basque Country, northern Spain) between 1989 and 1991. Typical adult-onset and neonatal cases and relatives at risk; suffering from a partial syndrome, were included. In the latter, molecular typing was performed with DNA probes close to the MyD gene to demonstrate the MyD gene carrier status. The high prevalence detected (26.5 cases per 100,000 population) could be explained by methodological factors, but intrinsic factors, such as a possible founder genetic effect or the quick growth of the Guipúzcoa population since the last century may contribute to one of the highest MyD prevalence in the world. In the future, the methodological basis for epidemiologic surveys of MyD must combine molecular technology with more-extensive family inquiries.

CTG Expansion & Haplotype Analysis in DM1 Gene in Healthy Iranian Population

“…11,17,18 According to the haplotype analysis for Alu, Hinf1 and Taq1 markers, it has been suggested that (CTG)≥18 alleles have arisen from the (CTG)5 alleles, and that (CTG)≥18 alleles could serve as a reservoir for new mutations, as such alleles may become unstable and expand to full mutation alleles, causing DM1. 7 However, in African populations, large normal alleles with more than 18 repeats have arisen from (CTG)9-17 alleles.…”

Investigando enfermedades raras del adulto en atención primaria: una hipótesis clasificatoria

“…Llevamos a cabo una recopilación (case-finding) de estos pacientes (16) llegando a la conclusión mediante un sencillo análisis (proporciones de prevalencia basadas en hipótesis muestrales) de que en nuestra zona la enfermedad de Steinert no es una ER porque existe un "racimo". Hay otros lugares del Estado español en donde esto también ocurre (17,18). DISCUSIÓN Las características intrínsecas de la atención primaria rural en nuestro país (19)(20) la hacen esencialmente diferente de la atención primaria urbana.…”

The Epidemiology of Myotonic Dystrophy in Northern Ireland

“…Some communities have much higher prevalence rates [33, 34, 35, 36, 37], but these regions are isolated either geographically, ethnographically, culturally or racially. The highest prevalence rate is 1,890 × 10 –6 , in Saguenay-Lac-Saint-Jean, Québec, Canada [37].…”

“…Rolander [35]found a rate of 365 × 10 –6 in Norrbottens, Sweden, and Chen et al [36]found a rate of 763 × 10 –6 in Guam. Lopez dé Munain et al [33]calculated a prevalence of 263 × 10 –6 in the Basque area of Guipúzcoa, Spain. These high-prevalence areas support the notion of a founder effect.…”