[Screening for Duchenne muscular dystrophy].

نویسنده

  • R Beckmann
چکیده

A programme was introduced in Wales to screen all 18 month old boys who were not yet walking for raised creatine kinase activity within the existing community developmental screening programme. During an 18 month period 25 229 such boys were identified of whom 19 930 (79%) had a Denver developmental screening test and 338 (1.7%) of these were not walking. Two hundred and five of those who did not walk (61%) had creatine kinase activity assayed and two cases of Duchenne muscular dystrophy were detected. We conclude that screening boys of 18 months who do not walk is worthwhile if the opportunity arises, but that a population based screening programme of this type is not justified as detection rates will be unacceptably low.

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

P164: Adeno-Associated Viral Vectors in Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...

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

Screening the newborn for Duchenne muscular dystrophy: parents' views.

A short report is provided of an interview survey of 69 parents of boys suffering from Duchenne muscular dystrophy to determine their views of neonatal screening and their experiences at the time of diagnosis. Most of the parents favored screening in the neonatal period or in early infancy, and most of them expressed dissatisfaction with present delays, methods of disclosure, and subsequent su...

متن کامل

A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, with an estimated frequency of 1:5000 live births. The impact of the disease presents as early as infancy with significant developmental delays, and ultimately loss of ambulation and respiratory insufficiency. Glucocorticoids are the only pharmacological agents known to alter the natural progression of th...

متن کامل

Feasibility of neonatal screening for Duchenne muscular dystrophy.

During the period November 1976 to September 1980, 2703 babies born in one Edinburgh hospital were screened in the neonatal period by estimation of their serum creatine kinase levels for Duchenne muscular dystrophy. Among the 2336 male babies tested, none proved to be affected and only 16 required second specimens to be obtained. Overall the false positive rate in the study was 0.78%. This stud...

متن کامل

Creatine phosphokinase levels in the newborn and their use in screening for Duchenne muscular dystrophy.

The PKU sample, if taken after the 3rd day, is suitable for Duchenne muscular dystrophy screening using creatine phosphokinase (CPK) levels. 101 babies (53 girls and 48 boys) had CPK levels measured on filter paper blood specimens taken by heel prick on the 1st and 4th days of life. The method used was that described by Zellweger and Antonik (1975). The CPK levels were markedly raised on the 1s...

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:
  • Archives of disease in childhood

دوره 64 7  شماره 

صفحات  -

تاریخ انتشار 1981