myotonic dystrophy


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Noun1.myotonic dystrophy - a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant
dystrophy, muscular dystrophy - any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
References in periodicals archive ?
Ultrasound imaging of the masseter muscle in myotonic dystrophy patients.
Myotonic dystrophy type 1 (DM1): A triplet repeat expansion disorder.
Additionally, the report provides an overview of key players involved in therapeutic development for Myotonic Dystrophy and features dormant and discontinued projects.
sup][8] reported a sibship with 2 individuals affected by myotonic dystrophy and a third with syringomyelia.
Myotonic dystrophy type 1 is the most common form of myotonic muscular dystrophy diagnosed in children, with a prevalence ranging from 1 per 100,000 in Japan to 3-15 per 100,000 in Europe7.
Keywords: caregiver, dysphagia, myotonic dystrophy, phenomenology, qualitative research
Our current development programs focus on two devastating rare diseases myotonic dystrophy and fragile X syndrome both of which have limited treatment options and represent significant commercial opportunities in drug development.
In its first-ever guidance on genetic conditions in pregnancy, the ACOG Committee on Genetics outlined the key features of certain maternal genetic conditions, including cystic fibrosis, Marfan syndrome, neurofibromatosis type 1, tuberous sclerosis, autosomal dominant polycystic kidney disease, classic phenylketonuria, Noonan syndrome, and myotonic dystrophy type 1 (Obstet Gynecol.
Although only approximately 20 of these conditions have been identified, they include some of the commoner genetic conditions, such as fragile X mental retardation syndrome, myotonic dystrophy, Huntington disease (HD) and a number of the spinocerebellar ataxias.
It also reviews key players involved in the therapeutic development for Myotonic Dystrophy and special features on late-stage and discontinued projects.
Four clinical variants have been described: an eruptive type, (4) a perforating type, (5) a familial type associated with myotonic dystrophy (6) and a recurrent invasive, non-metastatic pilomatrix carcinoma.
Washington, Jan 05 ( ANI ): Researchers have revealed an atomic-level view of a genetic defect that causes a form of muscular dystrophy, myotonic dystrophy type 2.