Duchenne gene carrier as cause of asymptomatic hyperckemia.

نویسندگان

  • Diogo Fraxino de Almeida
  • Aluisio Cláudio Mentor Couto Melo
  • Paulo Rogério M de Bittencourt
چکیده

Dr. Diogo Fraxino de Almeida – Avenida Independência 258/405 87015-020 Maringá PR Brasil. E-mail: [email protected] Asymptomatic hyperCKemia can be a clinical challenge for physicians, although its long term prognosis seems benign. The causes usually include heavy exercise practice, muscle injury, drug-induced myopathy, chronic alcoholism, hypothyroidism, clinically silent myopathies, and susceptibility to malignant hyperthermia. A frequently missed cause in women is the carrier status of the Duchenne muscular dystrophy. We report a case and discuss its investigational approach.

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

Asymptomatic or minimally symptomatic hyperCKemia: histopathologic correlates.

BACKGROUND Persistent creatine kinase elevation is occasionally encountered in subjects without any clinical manifestation of a neuromuscular disorder or any condition known to be associated with increased serum CK levels. It is still unresolved whether extensive investigations and specifically a muscle biopsy should be performed in clinically normal individuals with elevated CK levels. OBJEC...

متن کامل

On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers.

Mutations in the human alpha-sarcoglycan gene on chromosome 17q21.2 have been shown to cause a severe childhood autosomal recessive muscular dystrophy, a less severe limb girdle muscular dystrophy, exercise intolerance, or asymptomatic hyperCKemia. Here, we describe the clinical findings in a German family harboring a 371 T > C (Ile124Thr) missense mutation in the alpha-sarcoglycan gene. Wherea...

متن کامل

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

EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia.

OBJECTIVE To provide evidence-based guidelines to general neurologists for the assessment of patients with pauci- or asymptomatic hyperCKemia. BACKGROUND Recent epidemiologic studies show that up to 20% of 'normal' individuals have an elevated creatine kinase activity in the serum (sCK). The possibility of a subclinical myopathy is often raised, and patients may be unnecessarily denied treatm...

متن کامل

A 15-year molecular analysis of DMD/BMD: genetic features in a large cohort

Duchenne (DMD) and Becker muscular dystrophies (BMD) are X-linked recessive neuromuscular disorders caused by mutations in the dystrophin gene. In most cohorts, DMD/BMD are due to deletions (60-80%) and duplications (6-10%) involving one or more exons. The remaining cases are caused by different type of point mutations. We analyzed 179 unrelated male patients, 296 women belonging to 137 DMD/BMD...

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:
  • Arquivos de neuro-psiquiatria

دوره 66 2B  شماره 

صفحات  -

تاریخ انتشار 2008