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The Life in Your Years

Every day is full of beautiful moments of joy and gratitude, but every day is also full of moments of sorrow and fear. Every Duchenne parent is familiar with this painful paradox. It’s just a part of what it feels like to have a child with a degenerative disease. We rejoice with them daily, but we also mourn with them through the difficulties they face. Sometimes at the exac...

This Little Light of Mine

My oldest son recently lost his ability to walk. Not only has he been dealing with the emotions that come with such a change, but our whole family has also been grieving the loss of his ambulation. My husband and I obviously knew it would be part of his progression, but the reality of it felt much heavier than we anticipated. Our other two children had to adjust to the transit...

Principles for Living with a Disability

My name is Matt Getting, and I’m a life coach that helps people and parents live with disabilities in a positive, effective way.  I also have Myotonic Muscular Dystrophy and am living proof that these principles work. We all have limiting beliefs, which are beliefs that we have that are not true. Th...

The Last Steps

If someone asked me what it’s like to be a Duchenne parent, I’d tell them that it’s a constant contradiction. It’s an odd combination of joy and sorrow. It’s an unsteady balance of firsts and lasts. It’s a strange paradox of pain and happiness, sometimes all at once. Being a Duchenne parent is full of every type of emotion life can offer....

Spring Awakenings

The voices in my head are back, “Kathy, you are not up for this anymore, be honest and just tell Paul and Patrick that you can’t do it; you’re getting too tired to take them on these trips anymore.” The other voice replies, “But I have to give them a vacation, how can you deny them a summer vacation, geez, they can’t walk, they can’t eat, it’s hard for them to...

Diagnosis Day

We all remember that day. Sometimes the very thought of it can bring us to our knees in agony. Other days it simply acts as the line of demarcation, dividing our old life from our new one. Diagnosis Day is a day we never forget because what follows is a completely different way of life. Among the Duchenne community, this day is referred to as D-Day. Most of us have th...
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Duchenne Muscular Dystrophy Research Terms

CureDuchenne
Adeno-Associated Viral (AAV) Adeno-associated viral (AAV) is a small, non-disease causing virus that can infect both dividing and non-dividing human cells. AAV cannot replicate on its own and is non-pathogenic. The AAV used for gene therapy does not insert DNA into the genome, but does deliver DNA to the host cell nucleus. Consequently, AAV vector can be used as an efficient delivery vehicle for the long-term expressio...

Exon Skipping and Stop Codon Read-Through

Duchenne UK
The DMD gene is made up of 79 pieces called exons. The exons link together to form a code that is read in the cells so that the protein dystrophin can be made. If there is a mutation or fault in the gene the exons no longer fit together and are not readable. The consequence is that very little or no dystrophin is made. Exon skipping drugs hide or ‘patch’ the missing piece so that the exons fit together again and can be read. A functional,...

What are the TREAT-NMD Global Registries?

Treat-NMD
New therapeutic strategies for neuromuscular diseases are being developed and some of these treatments will require large studies involving patients from more than one country.  TREAT‑NMD has created a Global Registry for Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) with trials and development of innovative therapies in mind. Global registries for other conditions are in development. National DMD and SMA regis...

Duchenne Muscular Dystrophy – A Guide for Patients and Families

Muscular Dystrophy Association
Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy. It is a genetic disorder characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Duchenne affects approximately 1 in 5,000 live male births. It is estimated that about 20,000 children are diagnosed with Duchenne globally each year.  DMD is classified as a dystrophinopathy, a muscle disease that results from th...

School Modifications

CureDuchenne
Those who live with Duchenne muscular dystrophy have physical activity limitations that need to be addressed at school.  Parents are encouraged to work with their schools to assist with decision making regarding the most appropriate activities for the student to participate in, typically through the Individualized Education Program (IEP) process.   The IEP team includes:  the child, his parents/guardians, at least one regular educa...

Coronavirus Health Update Guide by CureDuchenne

CureDuchenne
As a mom, a family, a friend, an advocate and a community, we know that the spread of the coronavirus disease 2019 (COVID-19) is clearly creating challenging times that call for the entire Duchenne community to come together and support each other. Through these challenging times, I wanted to personally assure you that CureDuchenne is here on this journey with you. We promise to continue to commit ourselves to providing the Duchenne co...
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Safety and Effectiveness of Ataluren: Comparison of Results From the STRIDE Registry and CINRG DMD Natural History Study

Journal of Comparative Effectiveness Research
Aim:  Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). We examined the effectiveness of ataluren + standard of care (SoC) in the registry versus SoC alone in the Cooperative International Neuromuscular Research Group (CINRG)...

Life Expectancy at Birth in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis

European Journal of Epidemiology
Several studies indicate that prognosis for survival in Duchenne muscular dystrophy (DMD) has improved in recent decades. However, published evidence is inconclusive and some estimates may be obsolete due to improvements in standards of care, in particular the routine use of mechanical ventilatory support in advanced stages of the disease. In this systematic review and meta-analysis (PROSPERO identifier: CRD42019121800), we searched MEDLINE (t...

Is it the Right Time for an Infant Screening for Duchenne Muscular Dystrophy?

Neurological Sciences
Newborn screening (NBS) is an essential, preventive public health programme for early identification of disorders whose early treatment can lead to significant reduction in morbidity and mortality. NBS for Duchenne muscular dystrophy (DMD) has been a controversial matter for many years, because of false positives, the lack of effective drugs and the need of more data about screening efficacy.  The still high diagnostic delay of DMD an...

Enhanced CRISPR-Cas9 Correction of Duchenne Muscular Dystrophy in Mice by a Self-Complementary AAV Delivery System

Science Advances
Duchenne muscular dystrophy (DMD) is a lethal neuromuscular disease caused by mutations in the dystrophin gene (DMD). Previously, we applied CRISPR-Cas9–mediated “single-cut” genome editing to correct diverse genetic mutations in animal models of DMD. However, high doses of adeno-associated virus (AAV) are required for efficient in vivo genome editing, posing challenges for clinical application.  In this study, we packaged Cas9...

Recombinant Human Insulin-Like Growth Factor-1 Therapy for 6 Months Improves Growth but not Motor Function in Boys With Duchenne Muscular Dystrophy

Muscle & Nerve
Introduction: Recombinant human insulin-like growth factor-1 (rhIGF-1) is a growth factor and has anabolic effects on muscle. We investigated whether rhIGF-1 therapy: 1) improves or preserves muscle function; and 2) improves growth in boys with Duchenne muscular dystrophy (DMD). Methods: In this study we compared prepubescent, ambulatory, glucocorticoid-treated boys with DMD (n = 17) vs...

Clinical Development on the Frontier: Gene Therapy for Duchenne Muscular Dystrophy

Expert Opinion on Biological Therapy
Introduction:  The development of adeno-associated virus (AAV) vectors as safe vehicles for in vivo delivery of therapeutic genes has been a major milestone in the advancement of gene therapy, enabling a promising strategy for ameliorating a wide range of diseases, including Duchenne muscular dystrophy (DMD). Areas covered:  Based on experience with the development of a gene transfer...
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The Management of Skeletal Health in Boys With Duchenne Muscular Dystrophy

Scottish Muscle Network
This guideline is based on consensus between paediatricians managing children with neuromuscular disorders and paediatric endocrinologists with interests in bone disorders. Aim The aim of this guideline is to maintain health, mobility and function as...

Duchenne Muscular Dystrophy Scottish Physiotherapy Management Profile

Scottish Muscle Network Physiotherapy Group
Background: Duchenne Muscular Dystrophy (DMD) is often described in the literature as a relentlessly progressive muscle wasting disorder that affects mainly boys. It affects 3:10000 live male births across the world and without intervention, young men will rarely live beyond 19 years. There are some instances where females may show simila...

Caregiver Considerations for Duchenne Muscular Dystrophy

PTC Therapeutics, Inc.
Because of advancements in the diagnosis and treatment of Duchenne muscular dystrophy (DMD) and how treatment is approached, the 2010 guidelines for the recommendations of care for patients who are affected by Duchenne have been updated. With the support of the U.S. Centers for Disease Control and Prevention (CDC), the TREAT-NMD network for neuromuscular diseases, Parent Project Muscular Dystrophy (PPMD), and the Muscular Dystrophy Ass...

Management of Adrenal Insufficiency Risk After Long-term Systemic Glucocorticoid Therapy in Duchenne Muscular Dystrophy: Clinical Practice Recommendations

Journal of Neuromuscular Diseases
Long-term glucocorticoid therapy has improved outcomes in patients with Duchenne muscular dystrophy. However, the recommended glucocorticoid dosage suppresses the hypothalamic-pituitary-adrenal axis, leading to adrenal insufficiency that may develop during severe illness, trauma or surgery, and after discontinuation of glucocorticoid therapy. The purpose of this review is to highlight the risk of adrenal insufficiency in this patient p...

Durable Medical Equipment (DME) Guide

CureDuchenne
CureDuchenne was founded on one mission, to cure Duchenne muscular dystrophy. Along our organization’s journey, we have been fortunate enough to cultivate a community that has continued to support not only our mission, but one another as well. We will continue to make strides to ensure quality of life for all those living with Duchenne all the while continuing to fight until a cure is found. This Durable Medical Equipment (DME) Guide...

Evaluating implementation of the updated care considerations for Duchenne muscular dystrophy

Pediatrics

Care Considerations for Duchenne Muscular Dystrophy were published in 2010. However, little is known about the extent to which these considerations were implemented after publication. With this article, we provide direction on evaluating the uptake of the 2018 Duchenne Muscular Dystrophy Care Considerations. We identify key elements of care and present suggestions for their use in evaluation and research.

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DMD clinical therapies II: P.135 DMD-HUB: expanding clinical trial capacity for Duchenne muscular dystrophy, 1 year on

Neuromuscular Disorders
The need to increase capacity for Duchenne muscular dystrophy (DMD) trials and improve trial readiness was identified. Specifically, clinicians in established UK clinical trial centres involved in multiple DMD studies were reaching capacity, while centers with capacity lacked the expertise and needed support to develop and achieve the requirements set by industry to run clinical trials. The DMD-Hub was set up as a unique partnership betw...

DMD clinical therapies II: P.133 The burden of participation in a clinical trial for boys with Duchenne muscular dystrophy

Neuromuscular Disorders
Despite some medical breakthroughs in Duchenne muscular dystrophy, no cure is available at this moment. New therapies are studied in clinical trials (CT) in boys with DMD. The investments of those boys and their families participating in CT may not be underestimated: time investment, impact on family activities, absence at work and school, side effects of the medication, systematic medical examinations. There is a certain burden that comes wit...

New therapeutic approaches: I.9 Treatment of Duchenne muscular dystrophy: current efforts, bottlenecks and future prospects

Neuromuscular Disorders
In the last decade a number of therapeutic approaches for Duchenne muscular dystrophy has become available and there has been a proliferation of clinical trials. Several initial approaches have focused on attempts to restore dystrophin production by targeting specific groups of mutations. These have focused out of frame deletions with antisense oligonucleotides, or nonsense mutations with drugs allowing partial read through. These attemp...

Exhaustive characterization of the newly developed Duchenne muscular dystrophy rat model: a unique animal model for DMD which mimics the human disease at both the muscular and the cardiac levels

Neuromuscular Disorders
Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disorder caused by mutations in the gene encoding dystrophin. The evaluation of potential therapeutic products requires relevant animal models exhibiting a phenotype very close to those observed in human patients. If both large and small animal species deficient for dystrophin (especially mice and dogs) have been extensively used for preclinical studies of DMD, they present some limitat...

Finding clinical meaning in patient-reported functional health: development of the Duchenne muscular dystrophy lifetime mobility scale

Neuromuscular Disorders
Person-reported outcome (PRO) measures for DMD clinical trials should be tied to meaningful disease milestones such as loss of ability to stand, rise from a chair, climb stairs, walk independently, raise a hand to the mouth, as well as need for non-invasive ventilation. We developed the DMD lifetime mobility scale (DMD-LMS) with data from the CINRG Duchenne natural history study, using mobility items from the PODCI, PedsQL, PedsQL NMM, pediatric...

The 100-meter timed test: ability to detect change over time in Duchenne muscular dystrophy

Neuromuscular Disorders
The 100-meter timed test (100m) has been proposed as an outcome measure for use in Duchenne muscular dystrophy (DMD) that has the potential to expand the recruitment pool to include both younger and more able boys as it is a concrete concept of running 2 laps around a set of cones. Many of the current assessments used in DMD have a ceiling effect as the most able boys can achieve a perfect score. The 100m eliminates the ceiling effect by allowing...
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An Interview With Eric Olson

Development | The Company of Biologists
Eric Olson is Professor and Chair of Molecular Biology at the University of Texas Southwestern Medical Center, USA, where he holds the Robert A. Welch Distinguished Chair in Science, the Annie and Willie Nelson Professorship in Stem Cell Research and the Pogue Distinguished Chair in Research in Cardiac Birth Defects. In 1999, he was elected to the US National Academy of Sciences and, in 2001, to the Institute of Medicine of the National Academ...

CureDuchenne Professional Course

CureDuchenne
CureDuchenne’s education and support programs drive real change for those with Duchenne muscular dystrophy.  CureDuchenne offers multiple ways for healthcare professionals to access quality courses on Duchenne muscular dystrophy. Duchenne is the most common, terminal, childhood, genetic illness and at the same time is likely the most misunderstood condition.  Recent research has explained Duchenne more precisely including etiology,...

An Introduction to the Duchenne Muscular Dystrophy

StatPearls Publishing LLC
Duchenne muscular dystrophy (DMD) one of the most severe forms of inherited muscular dystrophies. It is the most common hereditary neuromuscular disease and does not exhibit a predilection for any race or ethnic group. Mutations in the dystrophin gene lead to progressive muscle fiber degeneration and weakness. This weakness may present initially with difficulty in ambulation but progressively advances to such an extent that affected patients a...

Understanding Neuromuscular Disease Care

IQVIA Institute Report
Neuromuscular diseases (NMD) encompass a broad group of disorders that collectively impact an estimated 250,000 patients in United States. Currently, treatment options for these diseases are limited; however, the financial impact is staggering with costs related to neuromuscular disease exceeding $46 billion dollars annually. This new report, funded by the Muscular Dystrophy Association (MDA), shows that advancements in genetic testing and pre...

eDystrophin : A Database Dedicated to Human Dystrophin Variants

EDystrophin

eDystrophin is a database dedicated to human dystrophin variants produced by in-frame DMD gene mutations. This website takes you from the GENE to the PROTEINS through structural investigation and visualization. It is a locus specific database for in-frame mutations and single-nucleotide polymorphism (SNPs) found in the DMD gene and the associated dystrophin variants.

 

Duchenne Muscular Dystrophy and Becker Muscular Dystrophy: Professional Version

MSD Manual
Duchenne dystrophy and Becker dystrophy are the second most prevalent muscular dystrophy. They are caused by mutations of the dystrophin gene, the largest known human gene, at the Xp21.2 locus. In Duchenne dystrophy, this mutation results in the severe absence (< 5%) of dystrophin, a protein in the muscle cell membrane. In Becker dystrophy, the mutation results in production of abnormal dystrophin or insufficient dystrophin. Duchenne dystro...
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