Genetic-epidemiological studies in progressive muscular dystrophy.

نویسنده

  • J Prot
چکیده

A genetic and epidemiological study is especially important in those hereditary diseases for which no effective treatment is known, since then genetic counselling is the only means of prevention. The progressive muscular dystrophies are typical conditions of this sort. Knowledge of the type of hereditary transmission for a given form of muscular dystrophy is the basis for correct genetic prognosis. Finding methods of detection of gene carriers is crucial for genetic counselling. Estimation of such parameters as relative fitness, mutation rate, incidence, and prevalance types of progressive muscular dystrophy is important not only from a purely academic point of view but also from a practical one as well. It is important for accurate planning of services such as rehabilitation centres, hostels for crippled children, hospital and sanatorium beds. For this reason we undertook a genetic and epidemiological study of muscular disease in Poland.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Association of Limb-Girdle muscular dystrophy with multiple sclerosis: A case report

Background: The association of limb-girdle muscular dystrophy (LGMD) with other neurological disorders is uncommon. Case presentation: We report a 25-year-old female with LGMD who suffered from slowly progressive proximal muscular weakness and atrophy since she was 12 years of age. The patient recently presented with acute loss of left side visual acuity. After evaluation, findings were sugges...

متن کامل

Detection of the Duplication in Exons 56-63 of Duchenne Muscular Dystrophy Patients with MLPA

Background Duchenne Muscular Dystrophy (DMD) is a deadly X-linked recessive disorder. This genetic disorder affects 1 among 3,500-5,000 males in the world. The majority of the patients are male, due to the type of inheritance. It affects most of the skeletal, the respiratory, and cardiac muscles, causing these vital organs to contract and eventually mortality.<br...

متن کامل

[The causes of physical disability in municipalities of the northeast of Brazil and an estimate of costs of specialized services].

The population of the northeast of Brazil is characterized by high rates of endogamy and disabilities. An epidemiological cross-sectional study using the informant method was conducted in eight communities in the hinterlands of Paraiba to describe genetic and acquired diseases that cause disabilities and to estimate the costs of specialized services such as physiotherapy and the acquisition of ...

متن کامل

Rethinking the genetic basis and inheritance of fascioscapulohumeral muscular dystrophy.

1. Mostacciuolo M, Pastorello E, Vazza G et al. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet 2009: 75: 550–555. 2. Lemmers RJLF, Van der Vliet PJ, Klooster R et al. A unifying genetic model for fascioscapulohumeral muscular dystrophy. Science 2010: 329: 1650–1653. 3. Scionti I, Greco F, Ricci G et al. Large-sca...

متن کامل

Overview of genetic-epidemiological studies in ethnically and demographically diverse isolates of Dagestan, Northern Caucasus, Russia.

AIM To assess genetic diversity and genetic distances among isolated populations from Dagestan. METHODS A cross-population genetic epidemiology design was applied in ethnically and demographically diverse isolates from Dagestan, some with more than 200 and some with less than 100 generations of demographical history since their founding. RESULTS The analysis of genetic diversity showed that...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Journal of medical genetics

دوره 8 1  شماره 

صفحات  -

تاریخ انتشار 1971