• September 7 is World Duchenne Awareness Day, a global day aimed at raising awareness for those affected by Duchenne and Becker Muscular Dystrophy. (ptcbio.com)
  • Our efforts lead to the identification of novel molecular defects underlining several neurological disorders including Duchenne and Becker dystrophies, autosomal recessive and dominant muscular dystrophies, inner body myositis, disorders of glucose metabolism and storage, dysfunction of fatty acids metabolism and mitochondrial diseases. (centrodinoferrari.com)
  • Evaluación in vitro de terapias para las distrofias musculares de Duchenne y Becker, en particular oligonucleótidos antisentido. (biocrucesbizkaia.org)
  • Since 1985, the Lab is involved in the study of the biochemical and molecular features of neuromuscular (muscular dystrophies, metabolic disorders) and neurodegenerative (in particular those featuring motor neuron pathology such as Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy) disorders and in the development of cellular and molecular therapeutic interventions to these disorders. (centrodinoferrari.com)
  • En 1792, fue cuando se utilizó por primera vez a los animales en terapia, sucedió en Inglaterra. (umh.es)
  • En España no hay ninguna asociación o entidad, que se dedique a la terapia asistida con perros en niños con distrofia muscular de Duchenne, y ese también es uno de los motivos por los que realizar este plan de intervención. (umh.es)
  • Seminar to the Pharmacy Department, Cruces University Hospital "Uso de terapia antisense como terapia: el ejemplo de la distrofia muscular de Duchenne" Barakaldo, Spain. (arechavala-lab.com)
  • BioCruces Neuroscience Area Invited seminar "Uso de terapia antisense como terapia: el ejemplo de la distrofia muscular de Duchenne" Cruces University Hospital, Barakaldo, Spain. (arechavala-lab.com)
  • Congress of the Spanish Neurology Society, "Terapia de RNA en enfermedades neuromusculares: salto del exón en la distrofia muscular de Duchenne" Barcelona, Spain. (arechavala-lab.com)
  • Restaurar su expresión necesita de terapias personalizadas a las mutaciones que producen su déficit y por ello las nuevas terapias (edición génica, terapia celular, drogas "readthrough" y la corrección del splicing con oligonucleótidos antisentido (AOs)) han de evaluarse en cultivos celulares de pacientes. (biocrucesbizkaia.org)
  • Asimismo, utilizamos las últimas técnicas de edición génica CRISPR/Cas, no sólo como posible terapia, sino para generar mejores modelos de la enfermedad en los que evaluar de la manera más exhaustiva posible nuevas terapias antes de pasar a ensayos clínicos. (biocrucesbizkaia.org)
  • Therapeutic gait interventions for individuals with Duchenne Muscular Dystrophy (DMD) should be based on understanding how movement of the individual is affected and whether different clusters of individuals, determined by clinical severity, differ. (bvsalud.org)
  • Pre-clinical development and the experimentation of new therapeutic approaches have been particularly advanced in Duchenne's Muscular Dystrophy, Spinal Muscular Atrophy, Multiple Sclerosis, Lateral Amiotrophic Sclerosis and early Dementia. (centrodinoferrari.com)
  • Caracterización de cultivos celulares musculares tanto humanos como animales. (biocrucesbizkaia.org)
  • Her work in advocating for accessibility, inclusion, independence, equality, and amplifying the patient voice has earned her a "Caregiver of the year" 2022 award by the charity Muscular Dystrophy UK. (ptcbio.com)
  • El precio promedio de los suplementos industriales se calculó con base en los valores cobrados en diciembre de 2022, consultados en la herramienta Google Shopping. (bvsalud.org)
  • Para ello utilizamos no sólo cultivos de células humanas, sino también de modelos animales de la enfermedad, con el objetivo de acelerar el paso a ensayos clínicos y minimizar los estudios necesarios en animales. (biocrucesbizkaia.org)
  • Debido a la rápida y progresiva evolución que conlleva la distrofia muscular, y conociendo que este tipo de terapias alternativas ha tenido beneficios en otros colectivos, creo que es necesario, trazar una línea donde se una a estos niños, antes de una mayor afectación, con esta forma de intervención. (umh.es)
  • Summer course, University of the Basque Country, "Las enfermedades raras: un reto global para el sistema sanitario" "La experiencia de los ensayos con terapias génicas en la distrofia de Duchenne" San Sebastián, Spain. (arechavala-lab.com)
  • Nuestro grupo trabaja en la racionalización de los ensayos preclínicos de nuevas terapias para la DMD y para ello ha desarrollado nuevos métodos para evaluar estas nuevas terapias utilizando un menor número de muestras de pacientes. (biocrucesbizkaia.org)
  • Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy in childhood, with more than 25,000 patients in Europe. (europa.eu)
  • The Duchenne's syndrome is the most common muscular dystrophy diagnosed during the childhood. (umh.es)
  • Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. (wikipedia.org)
  • Severe cases of myotonic dystrophy will be noticeable at birth, and babies with this "congenital" form may have breathing and swallowing problems and be quite severely ill, needing respiratory support and a feeding tube. (treat-nmd.org)
  • Queixava-se de uma longa história de fraqueza muscular progressiva e fenômenomiotônico predominantemente na porção distal das pernas, antebraços, pulsos, mãos e dedos. (vdocuments.net)
  • the decrease in pulmonary function in people with Duchenne muscular dystrophy (DMD) contributes to a significant morbidity due to the progressive weakness of the respiratory muscles. (bvsalud.org)
  • In common with other muscular dystrophies, it causes muscle wasting and weakness. (treat-nmd.org)
  • This multi-systemic/multi-organ involvement is a particular feature of myotonic dystrophy, and in some cases, the non-muscle-related features of the condition - especially the heart problems - can be more of an issue for patients than the muscle weakness or myotonia. (treat-nmd.org)
  • He complained of a long history of progressive muscular weakness and myotonicphenomenon predominantly in the distal leg, forearm, wrists, hand and fingers. (vdocuments.net)
  • Investigación en Distrofia muscular de Duchenne" Manzana solidaria, colegio Europa, Getxo 10 Mayo 2017. (arechavala-lab.com)
  • fiaiweb.com/wp-content/uploads/2017/02/casos-myotonic-dystrophy. (vdocuments.net)
  • We will discuss the 10 years old patients who present with the classic symptoms of Duchenne disease and how we managed it in a low-income country. (peertechzpublications.org)
  • The genetic change that causes the symptoms of myotonic dystrophy is present at birth, but depending on its severity, myotonic dystrophy symptoms may become noticeable at almost any age. (treat-nmd.org)
  • Unlike some other forms of muscular dystrophy where infants may not achieve motor milestones, children with congenital myotonic dystrophy who overcome their initial breathing and feeding problems can make progress and often learn to walk, but as children they may have learning difficulties and other myotonic dystrophy symptoms. (treat-nmd.org)
  • They should have treatment for any of the particular symptoms they do have - for example heart problems or diabetes - from a doctor who understands that these symptoms are related to their myotonic dystrophy. (treat-nmd.org)
  • Hence, the objective is to discuss the method of diagnosis of Duchenne muscular dystrophy and its management. (peertechzpublications.org)
  • Shelley has been active in supporting these communities since her son's Duchenne diagnosis. (ptcbio.com)
  • In Spain there aren't any association or entity, who is dedicated to assisted therapy with dogs in children whit muscular dystrophy of Duchenne, and this also is one of the reasons to realise this plan of intervention. (umh.es)
  • miR-106b is a novel target to promote muscle regeneration and restore satellite stem cell function in injured Duchenne dystrophic muscle. (biocrucesbizkaia.org)
  • It is the most common type of muscular dystrophy. (wikipedia.org)
  • Although it's more of a "bone pain", lumbago falls into the category of the most common muscular diseases due to its origin in this system. (muysalud.com)
  • Some of the diseases of the muscular system are anecdotal and easily solvable (such as contractures), but others occur congenitally and can lead to the death of the patient in a few years. (muysalud.com)
  • Before entering fully into the most widespread diseases of the muscular system, we find it interesting to contextualize these diseases from an epidemiological point of view. (muysalud.com)
  • According to the National Library of Medicine of the United States , contractures and cramps are included within the group of muscular diseases. (muysalud.com)
  • In 2015, Laura began working at the Asociación Distrofia Muscular (ADM) of Argentina, the only organization for patients and families affected by Duchenne in her country. (ptcbio.com)
  • Due to the fast and progressive evolution of the muscular dystrophy, and knowing that this type of alternatives therapy's has had benefits in others collectives, I believe that is necessary to draw a line where to connect this children, before they are more affected, whit this form of intervention. (umh.es)
  • Myotonic dystrophy (often abbreviated as DM after its Latin name dystrophia myotonica) exists in two forms, usually referred to as type 1 or DM1 and type 2 or DM2. (treat-nmd.org)
  • Type 1 myotonic dystrophy is also sometimes called Steinert's Disease. (treat-nmd.org)
  • Myotonic dystrophy is thought to affect at least 1 in 8,000 people worldwide. (treat-nmd.org)
  • Many doctors are unfamiliar with the condition and this makes it particularly important that people who have myotonic dystrophy and their families are themselves aware of the problems they may face. (treat-nmd.org)
  • Duchenne disease is caused by a deletion of the gene coding for dystrophin. (peertechzpublications.org)
  • The Duchenne disease is a rare disease worldwide. (peertechzpublications.org)
  • Shelley Simmonds is a mother and caregiver who has used her personal experiences to campaign for better resources and care for those in the Duchenne, rare disease, and disability communities. (ptcbio.com)
  • Acum are tonul muscular scăzut, care duce la slăbiciune musculară peste tot corpul său, inclusiv gât, trunchi, corpul superior, și picioarele cauzează incapacitatea de a merge. (tratamentcucelulestem.com)
  • Although no 'cure' for myotonic dystrophy exists at present, adequate care and support can do a lot to help those affected. (treat-nmd.org)
  • In English: Duchenne muscular dystrophy and/or maximal respiratory pressure and/or age group. (bvsalud.org)
  • Polymyositis or the group of muscular dystrophies (MD) are clear examples of this category. (muysalud.com)
  • II Research Workshop Duchenne Parent Project Spain, "Research of the Neuromusuclar Disorders Group at IIS BioCruces" Barcelona, Spain. (arechavala-lab.com)
  • The general objective is design a project of assisted intervention with dogs for children with muscular dystrophy of Duchenne. (umh.es)
  • Duchenne Parent Project Spain I Workshop trasferencia del conocimiento en la distrofia muscular de Duchenne, "Grupo Enfermedades Neuromusculares IIS BioCruces" Barcelona, Spain. (arechavala-lab.com)
  • A fearless patient advocate, Duchenne caregiver and mother, Marharyta worked closely with her son's school, other parents, students and teachers to make it possible for her 13-year-old son to continue his education at the local school in Ukraine. (ptcbio.com)
  • Maria Laura D'Annunzio, Psychologist, Senior Manager, Argentina, is part of PTC's patient engagement team who knows first-hand what it is like to be affected by Duchenne. (ptcbio.com)
  • Silva TD da, Papa DCR, Coe S, Malheiros SRP, Massetti T, Meira Junior C de M, Ré AHN, Collett J, Monteiro CB de M, Dawes H. Evaluation of speed-accuracy trade-off in a computer task to identify motor difficulties in individuals with Duchenne Muscular Dystrophy - A cross-sectional study [Internet]. (usp.br)