A muscle biopsy performed 27 years ago was interpreted as showing changes consistent with muscular dystrophy. |
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There, in the camp, he almost died of hunger, developed dystrophy and pellagra, and almost lost his central vision. |
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Studies in a mouse model of muscular dystrophy suggest that some diaphragmatic function is preserved until late in the disease. |
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This center will conduct studies to develop new gene therapies for Duchenne muscular dystrophy. |
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His muscular dystrophy condition means that he is physically disabled, but inside there's this electrical storm buzzing away. |
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She suffers from a combination of dyslexia and a severe visual impairment consisting of severe photophobia, nystagmus and cone dystrophy. |
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It's used to help determine muscle conditions that might be causing muscle weakness, including muscular dystrophy and nerve disorders. |
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The pool caters for people suffering from a range of disabilities, including cerebral palsy, brain damage, muscular dystrophy and arthritis. |
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Blood tests may be conducted to rule out other conditions that may have some similar symptoms, such as muscular dystrophy and brain tumours. |
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Muscular dystrophy is characterized by progressive weakness and degeneration of the skeletal muscles. |
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The patient may present with corneal necrosis, dystrophy, ulceration, and abrasion. |
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Obviously, there's repetitive strain injury and reflex sympathetic dystrophy. |
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When retrotransposons are inserted into important genes, they can cause disease, such as hemophilia and muscular dystrophy. |
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This phenomenon has been described in osteogenesis imperfecta, achondroplasia and Duchenne muscular dystrophy. |
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It is an active painkiller and can help those who suffer from illnesses such as muscular dystrophy. |
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Gracile ribs are commonly seen in spinal muscular atrophy, congenital myotonic dystrophy and congenital myopathies. |
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The hallmark of muscular dystrophy is that muscle cells die due to a lack of the muscle protein dystrophin. |
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The symptoms of myotonic dystrophy may appear at any time from birth to old age and can affect both males and females. |
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His interest is in gene treatments for muscular dystrophy and muscle aging. |
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Scientists here will study gene and stem cell therapies to treat muscle disease, in particular Duchenne muscular dystrophy. |
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Duchenne's muscular dystrophy is a severe, debilitating, and progressive muscle wasting disease. |
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The symptoms of muscular dystrophy depend on the muscle groups first affected. |
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To date, very few options are available for the treatment of myotonic dystrophy. |
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It's a rare form of muscular dystrophy called disautonomic myocondrial myopathy. |
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Understanding of inherited conditions such as cystic fibrosis, muscular dystrophy and haemophilia will also be greatly improved. |
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And I went to the clinic to see if I had a thing called myotonic muscular dystrophy, which is also known as Steinert's disease. |
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Many kids with muscular dystrophy also have weakened heart and respiratory muscles. |
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Researchers hope the findings can be used to help fight against muscle diseases, like muscular dystrophy. |
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A diagnosis of chronic respiratory failure due to Duchenne's muscular dystrophy was made. |
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In Duchenne muscular dystrophy, attempts at cell therapy, using muscle stem cell preparations, have been largely disappointing. |
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Duchenne muscular dystrophy is an X linked disorder affecting approximately 1 in 3500 male live births. |
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In cases of Duchenne muscular dystrophy, symptoms usually begin to appear around age 5, as the pelvic muscles begin to weaken. |
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The plaintiff in this case had reflex sympathetic dystrophy in his left arm caused by a work-related accident. |
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A number of British fertility clinics are already testing embryos for inherited conditions like muscular dystrophy. |
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This dermal dystrophy leads to small vessel dilation resulting in telangiectasia, erythema and flushing. |
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Carrier testing is also instigated by a positive family history such as Duchenne muscular dystrophy, fragile X syndrome, or certain chromosomal disorders. |
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On one hand, a lot of it seems more devoted to hyping the careers of Jerry and his friends than to actually doing good for folks afflicted with muscular dystrophy. |
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The American Thoracic Society published a paper on the respiratory care of patients with Duchenne muscular dystrophy and recent advances in treatment. |
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Let's take that over to the third point here, where you mention a genetic disease like muscular dystrophy. |
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Facioscapulohumeral dystrophy causes weakness and wasting of predominantly the face, shoulder girdle, and arms in teenagers. |
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Some cases of muscular dystrophy, in which there is usually a gradual weakening of the muscles, also show stages of myotonia. |
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Therefore, chromosome studies are not recommended for patients who are thought to have a single gene disorder such as cystic fibrosis or muscular dystrophy. |
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They have to be repeated with dystrophic dogs whose dystrophy is more similar to the human disease than the dystrophy of the mice. |
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Unlike myotonia congenita, in myotonic muscular dystrophy the muscles do not overdevelop but instead gradually degenerate. |
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Of the several types of muscular dystrophy, the more common are Duchenne, facioscapulohumeral, Becker, limb-girdle, and myotonic dystrophy. |
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The same failure of relaxation occurs in myotonia congenita but without the wasting features of myotonic dystrophy. |
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This is the way that myotonic dystrophy genes were cloned, for instance, recently by Dr. Korneluk here in Ottawa. |
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This approach has not yet been tested for limb girdle myopathies, but the proof of principle has been established in myotonic dystrophy. |
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In those cases, a diagnosis of myotonic dystrophy typeĀ 2 should be considered. |
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We might add to muscular dystrophy diseases like Huntington's chorea, or Down syndrome or achondroplasia. |
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In addition to diabetes, the Stem Cell Network is currently focusing on Parkinson's disease, hemophilia and muscular dystrophy. |
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On May 15, the RCCAQ permanent staff will be walking to raise funds for muscular dystrophy. |
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Her story is closely linked to her illness, muscular dystrophy, which obliges her to move around in a wheelchair. |
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Treatment of muscles injuries and muscular disorders like muscular dystrophy. |
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The other suffers from Stargardt's macular dystrophy, its main cause in children. |
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They have to play some role in the decision whether to pay for research into medieval poetry or muscular dystrophy. |
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None will be trickier than the expected emergence of gene therapy, starting with treatments for, say, muscular dystrophy. |
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Koilonychia is dystrophy of the fingernails in which they are thinned and concave with raised edges. |
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Fifty years old muscular dystrophy patient, his temper is quick and rebellious. |
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The prestigious genevan haute horlogerie firm created a one-of-a-kind model on behalf of the monaco association against muscular dystrophy. |
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Turns out, the drug may help sufferers of a rare and deadly form of muscular dystrophy. |
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For instance, Leah, whose daughter has a rare form of muscular dystrophy, is upset that her ex is getting married. |
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For this reason, X-linked conditions like hemophilia or muscular dystrophy are expressed in sons and transmitted by physically normal carrier mothers. |
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Heart muscles and some other involuntary muscles are also affected in some forms of muscular dystrophy, and a few forms involve other organs as well. |
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This type of scoliosis occurs as a result of a condition which affects the nerves or muscles of the back, such as cerebral palsy or muscular dystrophy. |
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Some of the reported associated systemic diseases include systemic lupus erythematosus, diabetes mellitus, myotonic dystrophy, and chronic active hepatitis. |
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Scientists also identified genes that affirm the chicken's value as a model for study of developmental disorders like cleft palate and diseases like muscular dystrophy. |
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Data files are now compiled which will allow the prediction of the clinical course of a Duchenne or Becker muscular dystrophy based on a defined deletion, duplication or point mutation. |
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Complications such as palirrhea and diarrhea occurring after operation may further aggravate dystrophy. |
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Muscular dystrophy means a definite diagnosis of muscular dystrophy where the insured person has well defined neurological abnormalities, confirmed by electromyography and muscle biopsy. |
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Good insertion of the nail base into the sack bottom of the proximal nail fold is very important to prevent a dead space that may cause adherence between the nail matrix and eponychium and subsequent ungual dystrophy. |
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And we're working on a project right now in Mexico that's going to help kids with cerebral palsy, muscular dystrophy or multiple sclerosis to walk again. |
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So for now, many companies are focusing on better defined illnesses like muscular dystrophy and cachexia, the rapid muscle wasting that can accompany cancer or other diseases. |
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For diseases such as cystic fibrosis or muscular dystrophy, which involve one or a few inherited genetic changes, clinical trials are attempting to introduce the correct versions of faulty genes into patients. |
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The most frequent types of test offered included tests for diseases and conditions such as Huntington's disease, haemophilia, muscular dystrophy and cystic fibrosis. |
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Even so, Mattie managed to travel, to read extensively, to produce his poetry, to collect rocks, and to become a spokesperson for muscular dystrophy. |
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In the shoulder-hand syndrome, apart from shoulder pain, which is itself a secondary problem associated with hemiplegia, there is also reflex sympathetic dystrophy affecting the hand. |
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Concerning the exon skipping technique, a therapeutic approach implemented for Duchenne muscular dystrophy, Judith Van Deutekom evaluated the situation concerning toxicity studies conducted with morpholinos in animal models. |
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A dreadful disease, possibly muscular dystrophy, had shriveled his legs. |
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We intend to study the role of HDAC4 in muscular dystrophy by characterizing mdx mice lacking HDAC4 in skeletal muscle. |
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Corneal stromal pathologies resulted from postkeratitis corneal leucoma in 8 patients, posttraumatic corneal scarring in 1 patient, and anterior stromal corneal dystrophy in 5 patients. |
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Nail features include nail dystrophy, which ranges from mild pitting or ridging of the nail plate to hyperkeratosis and onycholysis. |
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The announcement was devastating to some parents of boys with muscular dystrophy and has raised questions about whether exon skipping will ever work. |
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Studies as far back as the 1930s found glycine useful for treating myasthenia gravis and muscular dystrophy. |
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The clinical features do not differ markedly from those of other mild forms of progressive muscular dystrophy with the exception of finger contractures which are sometimes suggestive of the diagnosis. |
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Aegera Therapeutics Inc. was launched in Ottawa, based on the groundbreaking research of Dr. Robert Korneluk, a world renowned expert in myotonic muscular dystrophy. |
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Use of dehydroepiandrosterone sulfate or a pharmacologically acceptable salt thereof for the manufacture of a medicament for the treatment of myotonic dystrophy. |
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As a small proportion of individuals with symptoms of myotonic dystrophy do not have a CTG expansion in the DMPK gene, a negative result does not rule out this diagnosis. |
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The staff of the Solange Gauthier Karsh Laboratory is responsible for critical insights into myotonic dystrophy and spinal muscular atrophy, two of the most common inherited neuromuscular diseases. |
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They had permission from the families to look at this trait as it spread through the various family members to try to identify the particular region of DNA that was possibly the signal for the myotonic dystrophy. |
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The two-year project follows an earlier scheme that investigated muscular dystrophy cardiomyopathy, a condition which weakens heart muscle. |
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Myotonic muscular dystrophy type 1 and myotonic muscular dystrophy type 2 are both caused by a genetic mutation, albeit on different chromosomes, that results in defective RNA, the molecule that translates DNA into proteins. |
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Highlights of the meetingĀ included the presentation of Genzyme's trial for Pompe's disease, PTC's trial for Duchenne muscular dystrophy and the announcement of the upcoming clinical protocol for progeria by N. Levy. |
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The AFM was created in 1958, and for the first 25 years, the president was Yolaine de Kepper, mother of 4 boys with muscular dystrophy and a heterozygote daughter. |
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Muscular dystrophy will confine him for life. |
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And it wasn't her fault she got muscular dystrophy. |
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Mrs. Randall has muscular dystrophy and primarily uses a scooter. |
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Ben Carpenter, who has muscular dystrophy, was not injured. |
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Muscular dystrophy is even more of a puzzle. |
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Hundreds of mutations can cause varying degrees of muscular dystrophy. |
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I can't walk because I have muscular dystrophy. |
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Seven units on the third floor are designed for people with such disabilities as polio, spinal-cord injuries, muscular dystrophy and cerebral palsy. |
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Myotonic dystrophy is an autosomal dominant multisystem disorder characterized by muscle weakness and myotonia commonly beginning in early adulthood. |
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It is hoped however that it will soon be possible to arrive at almost complete certainty for the three most common genetic diseases in France: cystic fibrosis, muscular dystrophy, and the fragile X syndrome. |
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This pustular disease involves the nail beds and the periungual area, with characteristic nail dystrophy, paronychial redness, scaling, and chronic periungual swelling. |
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For example the absence of the protein dystrophin indicates Duchenne's muscular dystrophy and hence indicates an abnormality in the gene coding for this protein. |
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The authors correctly state that patients with myotonic dystrophy or dystrophia myotonica are at increased risk of residual neuromuscular blockade. |
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Early signs of Duchenne muscular dystrophy may include pseudohypertrophy, low endurance, and difficulties in standing unaided or inability to ascend staircases. |
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This month NHS England is expected to make a decision on whether to fund Translarna, the first treatment developed for sufferers of Duchenne muscular dystrophy. |
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The sea urchin has many genes linked to human diseases such as Huntington's chorea, muscular dystrophy, Usher syndrome, neurological disorders, and atherosclerosis. |
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