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This book explains in simple terms exactly what the condition is, what the symptoms are, how they can develop, and new approaches to therapy and management of the condition.
2
The 5-minute Neurology Consult
DESCRIPTION Myotonic dystrophy (DM) is an autosomal- dominant inherited
disorder characterized by progressive skeletal muscle weakness, wasting,
myotonia, and other nonmuscular features, such as cardiac conduction defects,
cataracts, ...
D. Joanne Lynn, Herbert B. Newton, Alexander Rae-Grant, 2004
These abnormalities are secondary to dysfunction of ion channels in the muscle
membrane. There are two types of myotonic dystrophy caused by abnormalities
in two distinct gene loci: myotonic dystrophy type 1 and myotonic dystrophy type
2 ...
4
Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes ...
Succinylcholine may even cause tonic contractions in infants with congenital
myotonic dystrophy in whom clinically apparent myotonia has not yet developed (
24). Because of dystrophic muscle changes, it is possible that in advanced cases
...
Victor C. Baum, Jennifer E. O'Flaherty, 2007
Discussion: There was electrophysiologic evidence of a generalized myopathy
with associated muscle membrane irritability and myotonic discharges.
Myopathies that can present with proximal weakness, clinical myotonia, and
myotonic ...
Steven Alan Greenberg, Anthony A. Amato, 2004
Children with myotonic dystrophy often show rather different features and are
considered in Chapter 5. Also most of these non-muscular problems occur much
more rarely in type 2 myotonic dystrophy (see Chapter 6). Of course, myotonic ...
7
The Molecular and Genetic Basis of Neurologic and ...
study described reversal of certain phenotypic features of myotonic dystrophy in a
mouse model using strategies aimed at silencing the expression of or destroying
the mutant DMPK transcript.73 Another study has demonstrated the reversal of ...
8
Electrodiagnosis in Diseases of Nerve and Muscle : ...
Note the absence of waxin E and waning quality typically associated with
myotonic potentials. [cf. Figure 14-7). dominant inheritance. 152-159
Exaggerated insertional positive waves may also accompany some metabolic
disorders, such as ...
Department of Neurology Jun Kimura M.D. Professor Emeritus, University of Kyoto School of Medicine Japan, 2001
9
Physical Medicine and Rehabilitation: Principles and Practice
Patients with myotonic muscular dystrophy often have a characteristic facies.
Long-standing myotonic muscular dystrophy is generally associated with a long,
thin face, with temporal and masseter wasting. This is sometimes described as ...
Joel A. DeLisa, Bruce M. Gans, Nicholas E. Walsh, 2005
10
Obstetric Anesthesia and Uncommon Disorders
The potential for anesthetic agents or techniques to induce MH, hyperkalemia, or
myotonic crisis must be assessed in the antenatal period. Multidisciplinary
consultation early in the pregnancy is, therefore, the key to a successful outcome.
David R. Gambling, M. Joanne Douglas, Robert S. F. McKay, 2008
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Shhh! Don't scare the goats
Yes, he had purchased Alpine goats but they were also myotonic goats. Myotonic goats are goats that faint from being startled or from loud ... «Price Sun Advocate, 七月 15»
Can gene editing preserve line between medicine and eugenics?
... it to correct a lethal genetic disease such as Tay-Sachs, or one that causes great suffering, such as cystic fibrosis or myotonic dystrophy. «Genetic Literacy Project, 七月 15»
NAM Patients Benefit from Aggressive Treatment
About half of the patients had myotonic discharges, which were more common in statin-associated NAM, they added. With regard to treatment, ... «MedPage Today, 七月 15»
The Secret to Champ's Success
Andy has myotonic muscular dystrophy, a condition that impacts his physical abilities, as well as his learning and speech. Just like the Lake ... «WCAX, 七月 15»
Pederson named editor-in-chief of FASEB Journal
He is currently investigating the live cell dynamics of CRISPR gene-editing machinery as well as its potential applications to myotonic dystrophy ... «News from the University of Massachusetts, 七月 15»
Isis Pharmaceuticals Earns $2.15M For Advancing ISIS-SMN Rx in …
Current development-stage programs include antisense drugs to treat patients with spinal muscular atrophy (SMA), ISIS-SMNRx, myotonic ... «PR Newswire, 七月 15»
What Extraordinarily Weird Things Are Locked Up in Your Junk DNA?
One of these was myotonic dystrophy. This heartbreaking multi-generational disease gets worse and worse over the generations. The first ... «io9, 七月 15»
New Publications Highlight Utility of Single Molecule, Real-Time …
TRs, known to cause significant repeat expansion disorders such as Fragile X and Myotonic Dystrophy, have been under-studied in human ... «MarketWatch, 七月 15»
JIMMY DON HOLLOWAY
Memorials may be made to the Myotonic Dystrophy Foundation, LifeTouch's John R. Williamson Hospice House or D.A.V.. An online registry is ... «El Dorado News-Times, 七月 15»
Horse pull, fainting goats highlight Cayuga County Fair's first year in …
In the morning, there was the myotonic fainting goats show. ... Meade said the myotonic goats are so rare that people often wait years just to ... «Auburn Citizen, 七月 15»
