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Early signs of gait deviation in Duchenne muscular dystrophy

Discussion in 'Pediatrics' started by NewsBot, Sep 15, 2011.

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  1. NewsBot

    NewsBot The Admin that posts the news.

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    Early signs of gait deviation in Duchenne muscular dystrophy.
    Doglio L, Pavan E, Pernigotti I, Petralia P, Frigo C, Minetti C.
    Eur J Phys Rehabil Med. 2011 Sep 13. [Epub ahead of print]
     
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    Press Release:
    Another muscular dystrophy mystery solved; MU scientists inch closer to a therapy for patients
     
  4. Admin2

    Admin2 Administrator Staff Member

    Duchenne muscular dystrophy

    Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy.[1] The symptom of muscle weakness usually begin around the age of four in boys and worsens quickly.[2] Typically muscle loss occurs first in the upper legs and pelvis followed by those of the upper arms. This can result in trouble standing up.[1] Most are unable to walk by the age of 12.[2] Affected muscles may look larger due to increased fat content. Scoliosis is also common. Some may have intellectual disability. Females with a single copy of the defective gene may show mild symptoms.[1]

    The disorder is X-linked recessive. About two thirds of cases are inherited from a person's parents, while one third of cases are due to a new mutation. It is caused by a mutation in the gene for the protein dystrophin. Dystrophin is important to maintain the muscle fiber's cell membrane. Genetic testing can often make the diagnosis at birth. Those affected also have a high level of creatine kinase in their blood.[1]

    No cure for muscular dystrophy is known. Physical therapy, braces, and corrective surgery may help with some symptoms.[2]Assisted ventilation may be required in those with weakness of breathing muscles.[1] Medications used include steroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, and immunosuppressants to delay damage to dying muscle cells.[2]

    DMD affects about one in 5,000 males at birth. It is the most common type of muscular dystrophy.[1] The average life expectancy is 26;[3] however, with excellent care, some may live into their 30s or 40s. Gene therapy, as a treatment, is in the early stages of study in humans.[1]

    Video explanation of Duchenne and Becker muscular dystrophy
    1. ^ a b c d e f g "Muscular Dystrophy: Hope Through Research". NINDS. March 4, 2016. Retrieved 12 September 2016. 
    2. ^ a b c d "NINDS Muscular Dystrophy Information Page". NINDS. March 4, 2016. Retrieved 12 September 2016. 
    3. ^ Lisak, Robert P.; Truong, Daniel D.; Carroll, William; Bhidayasiri, Roongroj (2011). International Neurology. John Wiley & Sons. p. 222. ISBN 9781444317015. 
     
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    Scientists find drug that may help in fight against Duchenne muscular dystrophy
     
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    Stem-cell approach shows promise for Duchenne muscular dystrophy
     
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    Press Release
    A quantum leap in gene therapy of Duchenne muscular dystrophy
     
  8. NewsBot

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    Combined therapy could repair and prevent damage in Duchenne muscular dystrophy
     
  9. NewsBot

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    Press Release:
    New Muscular Dystrophy Treatment Shows Promise in Early Study Led by Children’s National
    September 17, 2013

     
  10. Craig Payne

    Craig Payne Moderator

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    It took him 16hrs, but he completed the Chicago marathon:



    http://running.competitor.com/2013/...lar-dystrophy-finishes-chicago-marathon_86454
     
    Last edited by a moderator: Sep 22, 2016
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    Nanoparticles treat muscular dystrophy in mice
     
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    Recent advances in Duchenne muscular dystrophy
    Perkins KJ, Davies KE
    Degenerative Neurological and Neuromuscular Disease

     
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    Effects of AFO Use on Walking in Boys With Duchenne Muscular Dystrophy: A Pilot Study.
    Townsend EL, Tamhane H, Gross KD.
    Pediatr Phys Ther. 2014 Nov 14.
     
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    Gait propulsion in patients with facioscapulohumeral muscular dystrophy and ankle plantarflexor weakness
    N.H.M. Rijken, MSc, B.G.M. van Engelen, MD PhD, J.W.J. de Rooy, MD, V. Weerdesteyn, PhD, A.C.H. Geurts, MD PhD
    Gait & Posture; Articles in Press
     
  15. Admin2

    Admin2 Administrator Staff Member

    Facioscapulohumeral muscular dystrophy

    Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH)—originally named Landouzy-Dejerine[2]—is a usually autosomal dominant inherited form of muscular dystrophy (MD)[3] that initially affects the skeletal muscles of the face (facio), scapula (scapulo) and upper arms (humeral). FSHD is the third most common genetic disease of skeletal muscle. Orpha.net lists the prevalence as 4/100,000[4] while a 2014 population-based study in the Netherlands reported a significantly higher prevalence of 12 in 100,000.[5]

    Symptoms may develop in early childhood and are usually noticeable in the teenage years, with 95% of affected individuals manifesting disease by age 20 years. A progressive skeletal muscle weakness usually develops in other areas of the body as well; often the weakness is asymmetrical. Life expectancy can be threatened by respiratory insufficiency, and up to 20% of affected individuals become severely disabled, requiring use of a wheel chair or mobility scooter. In a Dutch study, approximately 1% of patients required (nocturnal or diurnal) ventilatory support.[6] Non-muscular symptoms frequently associated with FSHD include subclinical sensorineural hearing loss and retinal telangiectasia. In more than 95% of known cases, the disease is associated with contraction of the D4Z4 repeat in the 4q35 subtelomeric region of Chromosome 4. Seminal research published in August 2010 now shows the disease requires a second mechanism, which for the first time provides a unifying theory for its underlying genetics. The second mechanism is a "toxic gain of function" of the DUX4 gene, which is the first time in genetic research that a "dead gene" has been found to "wake up" and cause disease.[7][8]

    Building on the 2010 unified theory of FSHD, researchers in 2014 published the first proposed pathophysiology definition of the disease and four viable therapeutic targets for possible intervention points.[9]

    1. ^ Rickard, Amanda; Petek, Lisa; Miller, Daniel (August 5, 2015). "Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways". Hum. Mol. Genet. 24: 5901–14. doi:10.1093/hmg/ddv315. PMC 4581613Freely accessible. PMID 26246499. Retrieved September 10, 2015. 
    2. ^ disease overview, MDA, date accessed 6 March 2007
    3. ^ Lemmers RJ, Wohlgemuth M, van der Gaag KJ, et al. (November 2007). "Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy". Am. J. Hum. Genet. 81 (5): 884–94. doi:10.1086/521986. PMC 2265642Freely accessible. PMID 17924332. 
    4. ^ Prevalence of rare diseases: Bibliographic data, www.orpha.net, May 2014, Number 1, Orphanet Report Series
    5. ^ Deenen JC, Arnts H, van der Maarel SM, Padberg GW, Verschuuren JJ, Bakker E, Weinreich SS, Verbeek AL, van Engelen BG (2014). "Population-based incidence and prevalence of facioscapulohumeral dystrophy". Neurology. 83 (12): 1056–9. doi:10.1212/WNL.0000000000000797. PMC 4166358Freely accessible. PMID 25122204. 
    6. ^ Wohlgemuth M, van der Kooi EL, van Kesteren RG, van der Maarel SM, Padberg GW (2004). "Ventilatory support in facioscapulohumeral muscular dystrophy". Neurology. 63 (1): 176–8. doi:10.1212/01.wnl.0000133126.86377.e8. PMID 15249635. 
    7. ^ Kolata, Gina (19 August 2010). "Reanimated 'Junk' DNA Is Found to Cause Disease". New York Times. Retrieved 29 August 2010. 
    8. ^ Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM (19 August 2010). "A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy". Science. 329 (5999): 1650–3. doi:10.1126/science.1189044. PMID 20724583. 
    9. ^ Cite error: The named reference :2 was invoked but never defined (see the help page).
     
  16. NewsBot

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    Press Release:
    Bacterial defense mechanism targets duchenne muscular dystrophy
    Gene therapy approach could treat 60 percent of Duchenne Muscular Dystrophy patients.

     
  17. NewsBot

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    Effects of AFO Use on Walking in Boys With Duchenne Muscular Dystrophy: A Pilot Study: A Pilot Study
    Townsend, Elise L. PT, DPT, PhD, PCS; Tamhane, Himani PT, DPT, MS; Gross, K. Douglas PT, DPT, ScD, FAAOMPT, CPed
    Pediatric Physical Therapy: Spring 2015 - Volume 27 - Issue 1 - p 24–29
     
  18. NewsBot

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    Press Release:
    Ottawa researchers discover that Duchenne muscular dystrophy is a stem cell disease
    November 16, 2015

     
  19. NewsBot

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    PUBLIC RELEASE: 31-DEC-2015
    Gene-editing technique successfully stops progression of Duchenne muscular dystrophy
     
  20. NewsBot

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    PUBLIC RELEASE: 12-FEB-2016
    Stem cell gene therapy could be key to treating Duchenne muscular dystrophy
    Approach developed at UCLA holds promise for 60 percent of patients with the deadly disease
     
  21. NewsBot

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    Rehabilitative technology use among individuals with Duchenne/Becker muscular dystrophy.
    Pandya S et al
    J Pediatr Rehabil Med. 2016 Feb 27;9(1):45-53.
     
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    Beneficial effects of ankle-foot orthosis daytime use on the gait of Duchenne muscular dystrophy patients
    Mariana Angelica de Souza, Marisa Maia Leonardi Figueiredo, Cyntia Rogean de Jesus Alves de Baptista, Robson Devanir Aldaves, Ana Claudia Mattiello-Sverzut
    Clinical Biomechanics; Article in Press
     
  24. NewsBot

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    Press Release:
    Sarepta Issues Statement on Advisory Committee Outcome for Use of Eteplirsen in the Treatment of Duchenne Muscular Dystrophy
     
  25. NewsBot

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    Hip kinetics during gait are clinically meaningful outcomes in young boys with Duchenne muscular dystrophy
    Kent Hebererl, Eileen Fowler, Loretta Staudt, Susan Sienko, Cathleen E. Buckon, Anita Bagley, Mitell Sison-Williamson, Craig M. McDonald, Michael D. Sussman
    Gait and Posture; Article in Press
     
  26. NewsBot

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    Press Release:
    FDA Approves Exondys 51 (eteplirsen) for Duchenne Muscular Dystrophy
     
  27. NewsBot

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    Muscle activations during gait in children with Duchenne muscular dystrophy.
    Ropars J et al
    Ann Phys Rehabil Med. 2016 Sep;59S:e82-e83. doi: 10.1016/j.rehab.2016.07.190.
     
  28. NewsBot

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    PUBLIC RELEASE: 3-JAN-2017
    Not all Europeans receive the same care for Duchenne muscular dystrophy
    Researchers report significant regional and age-dependent differences, in the Journal of Neuromuscular Diseases

     
  29. NewsBot

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    PUBLIC RELEASE: 3-JAN-2017
    Not all Europeans receive the same care for Duchenne muscular dystrophy
    Researchers report significant regional and age-dependent differences, in the Journal of Neuromuscular Diseases

     
  30. NewsBot

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    Long-Term Outcome of Interdisciplinary Management of Patients with Duchenne Muscular Dystrophy Receiving Daily Glucocorticoid Treatment.
    Wong BL et al
    J Pediatr. 2016 Dec 30. pii: S0022-3476(16)31386-5.
     
  31. NewsBot

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    FDA News Release
    FDA approves drug to treat Duchenne muscular dystrophy
    For Immediate Release
    February 9, 2017
     
  32. NewsBot

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    Not all is what it seems:
    Source: https://www.wsj.com/articles/marath...89-000-for-muscular-dystrophy-drug-1486738267
     
  33. NewsBot

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    Diagnosis of duchenne muscular dystrophy in italy in the last decade: critical issues and areas for improvements
    Adele D'Amico et al
    Neuromuscular Disorders; Article in Press
     
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