Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. In DM, muscles...
43 KB (4,557 words) - 07:24, 11 November 2024
dystrophies include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy, whereas limb–girdle muscular dystrophy...
30 KB (2,269 words) - 03:51, 8 November 2024
Myotonia (redirect from Myotonic disorders)
transport) such as myotonia congenita, paramyotonia congenita and myotonic dystrophy. Brody disease (a disease of ion pump transport) has symptoms similar...
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Modafinil (section Myotonic dystrophy)
patients with myotonic dystrophy who often have underlying cardiac issues. Still, modafinil is not approved by FDA for use in myotonic dystrophy, and the value...
181 KB (16,711 words) - 18:23, 24 November 2024
Myotonin-protein kinase (redirect from Myotonic dystrophy protein kinase)
Myotonin-protein kinase (MT-PK) also known as myotonic dystrophy protein kinase (MDPK) or dystrophia myotonica protein kinase (DMPK) is an enzyme that...
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dystrophy Duchenne muscular dystrophy Becker's muscular dystrophy Myotonic dystrophy Reflex neurovascular dystrophy Retinal dystrophy Cone dystrophy Corneal...
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of repeat disorders. In 1992, for myotonic dystrophy type 1 (DM1), CTG expansion was found in the myotonic dystrophy protein kinase (DMPK) 3' UTR. In 1993...
61 KB (7,973 words) - 11:50, 13 September 2024
Repeated sequence (DNA) (section Myotonic dystrophy)
walking. Myotonic dystrophy is a disorder that presents as muscle weakness and consists of two main types: DM1 and DM2. Both types of myotonic dystrophy are...
31 KB (3,652 words) - 06:24, 26 September 2024
The Myotonic Dystrophy Foundation (MDF) is a patient organization focused solely on myotonic dystrophy (DM). Based in the Preservation Park of Oakland...
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trinucleotide repeat disorders, such as Huntington's disease and myotonic dystrophy, where a dynamic mutation in DNA occurs. All of these diseases have...
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Muscular system (section Muscular Dystrophy)
dystrophy (DMD) and Becker muscular dystrophy (BMD) Myotonic dystrophy Limb-Girdle (LGMD) Facioscapulohumeral dystrophy (FSHD) Congenital dystrophy (CMD)...
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muscular dystrophy, after the dystrophinopathies, myotonic dystrophies, and facioscapulohumeral muscular dystrophy. The prevalence of individual LGMDs, as studied...
35 KB (2,822 words) - 01:57, 6 November 2024
Moscow House of Photography Myotonic Dystrophy Foundation, a U.S. non-profit organization related to myotonic dystrophy Main distribution frame, a distribution...
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with post-poliomyelitis syndrome and electromechanical function in myotonic dystrophy (level C rating, class III data). Recently, with the rise of technology...
46 KB (5,577 words) - 19:46, 11 November 2024
of atrophying muscle diseases include muscular dystrophy, myotonia congenita, and myotonic dystrophy. Changes in Na+ channel isoform expression and spontaneous...
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Myotonia congenita (redirect from Batten Turner muscular dystrophy)
Paramyotonia congenita Hyperkalemic periodic paralysis Dystrophies Myotonic dystrophy (myotonic muscular dystrophy: Type 1 and Type 2) Potassium channel disorders...
26 KB (3,125 words) - 11:58, 6 October 2024
Dunn D, et al. (February 2021). "Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program"...
35 KB (3,579 words) - 17:00, 29 October 2024
Exonic splicing silencer (section Myotonic dystrophy)
5' splice site usage regulating alternative 3' splice site usage Myotonic dystrophy (MD) is most noticeably caused by inheriting an unstable CTG triplet...
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putting it in the three most common muscular dystrophies with myotonic dystrophy and Duchenne muscular dystrophy. Prognosis is variable. Many are not significantly...
176 KB (16,456 words) - 00:30, 6 November 2024
Zebrafish (section Muscular dystrophies)
zebrafish to determine the role of alternative splicing factor, MBNL, in myotonic dystrophy type 1 (DM1) pathogenesis. More recently, Todd et al. described a...
110 KB (12,241 words) - 17:11, 10 November 2024
Myogenic ptosis, which includes oculopharyngeal muscular dystrophy, myasthenia gravis, myotonic dystrophy, ocular myopathy, simple congenital ptosis and blepharophimosis...
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Double minute, fragments of extrachromosomal DNA in human tumors Myotonic dystrophy (DM-1/2/3), a chronic muscle-wasting disease n-Decyl β-D-Maltopyranoside...
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Prader-Willi syndrome; Norrie disease; Niemann–Pick disease, type C; and myotonic dystrophy. However, hypersomnia in these syndromes may also be associated with...
36 KB (4,358 words) - 20:03, 11 November 2024
Gowers's sign (category Muscular dystrophy)
Duchenne muscular dystrophy where it is mostly evident at 4–6 years, but also presents itself in centronuclear myopathy, myotonic dystrophy and various other...
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myopathy-myxoedema syndrome, myxoedema-muscular hypertrophy syndrome, myxoedema-myotonic dystrophy syndrome. The adult-onset form of this syndrome is Hoffmann syndrome...
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function of the protein encoded by the affected gene. In others, such as Myotonic Dystrophy Type 1, the pathology is caused by a change in protein expression...
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S2CID 27942659. "Orphanet: Congenital muscular dystrophy". www.orpha.net. Retrieved 2019-04-16. "Corneal dystrophy and perceptive deafness - About the Disease...
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such as amyotrophic lateral sclerosis or the neuromuscular disease myotonic dystrophy. The sources of genome instability have only recently begun to be...
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and neurodegenerative disorders such as Duchenne muscular dystrophy (DMD), myotonic dystrophy, and Huntington's disease. Prosensa was acquired by BioMarin...
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spaceflight on the human body Muscle weakness Muscular dystrophy Muscle hypertrophy Myotonic dystrophy Journal of Cachexia, Sarcopenia and Muscle Dev R (January...
30 KB (3,515 words) - 23:54, 3 September 2024