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
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References in periodicals archive ?
* On June 6, 2019, Vertex announced that it is expanding its collaboration with CRISPR Therapeutics and acquiring Exonics Therapeutics with the goal of developing novel therapies for Duchenne Muscular Dystrophy (DMD) and Myotonic Dystrophy Type 1 (DM1).
- US-based biotechnology company Dyne Therapeutics is supporting END-DM1, a natural history study to advance the understanding of disease progression in patients with myotonic dystrophy type 1 and enable the development of clinical outcome assessments, the company said.
Deregulated microRNAs in myotonic dystrophy type 2.
"I've held bag-packing and charity night events thus far, which have went really well, and being a Miss Scotland finalist has given me the platform to raise awareness of myotonic dystrophy.
Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification.
Ultrasound imaging of the masseter muscle in myotonic dystrophy patients.
The Myotonic Dystrophy Foundation has provided formalized suggestions for the anesthetic management of patients with Myotonic Dystrophy (see the following).
A 56-year-old female with a history of pulmonary embolism, myotonic dystrophy, and complete heart block on pacemaker presented to the emergency department (ED) with sudden onset shortness of breath and substernal chest pain radiating to the back.
Myotonic dystrophy, or Steinert's disease, is the most common form of muscular dystrophy that occurs in adults [1].
Concerning question (2), filtering patient characteristics according to some conditions, such as the use of gastric tube on a Myotonic dystrophy type 1 (MD1) patient, can be successfully performed.