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One Year Anniversary

“The greatness of a community is most accurately measured by the compassionate actions of its members.” – Coretta Scott King Just over a year ago, the entire D...

Gene Therapy for Duchenne Muscular Dystrophy

Gene Therapy for Duchenne Muscular Dystrophy Gene therapy offers the prospect of long-term and potentially curative benefits to patients with a genetic disease, including Duchenne muscular dystrophy. Today, three Duchenne gene t...

The World of Duchenne: How to Support a Duchenne Parent

The World of Duchenne I live in two worlds. One is the world we all live in. Everyone is familiar with how to navigate this world. There are endless maps, books, and guides to help people find their way around. Support is freely availa...

Recovering From a Broken Leg – Getting Back On Your Feet

Jennifer Wallace-Valdes, PT explains what to expect of rehabilitation after a leg fracture for those who are ambulatory with Duchenne muscular dystrophy. The days, weeks, and months that follow a leg fracture can be a very scary time. This video blog was cre...

A Different Kind of Normal

My mom says that from the day I was born my brother was always mesmerized by my face. As a 3-year-old, he would constantly touch my face, make silly faces to get me to laugh and he sincerely loved me. Of course, I don’t remember these details, but I do remember details of some experiences we shared together when we were younger....

Diagnosed with Duchenne – Embracing Life Beyond the Devastation

The Beautiful Blessings of Motherhood I remember the day I became a mother like it was yesterday. I remember vividly how it felt to hold my precious newborn for the first time. I remember the tiny fingers and tiny toes. I can almost smell that heavenly newborn skin aroma when I think ab...

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About Genetic Counseling

National Society of Genetic Counselors (NSGC)

Most genetic counselors work in a clinic or hospital, and often work with obstetricians, oncologists and other doctors. Like doctors, genetic counselors can work in a variety of settings and provide different services. They may provide general care, or specialize in one or more areas, including: • Prenatal and Preconception – for those who are pregnant or thinking about becoming pregnant • Pediatric – for children and their...

Inside “Custom Cars” For Gene Delivery

Get Science

Gene therapy shows great promise to be potentially transformational treatments for a number of single-gene disorders, such as Duchenne muscular dystrophy, hemophilia and cystic fibrosis. Gene therapy uses an engineered vector to deliver a replacement copy of a gene to diseased cells. In the case of single-gene disorders, introducing a working gene can help restore function of a faulty or missing protein.  While it’s a straightfo...

Steroid use in duchenne: Expert dialogue on latest data

CureDuchenne

Healthcare professionals, personal caregivers and family members of those with Duchenne muscular dystrophy gathered to learn about new data and best practices for steroid use in Duchenne at a webinar recorded on December 11. This free web broadcast featured a dialog between three physician experts and an experienced Duchenne parent/caregiver. Participants were able to ask and answer questions in the interactive format. Hosted by...

CureDuchenne – Treating the Whole Disease

CureDuchenne

Duchenne muscular dystrophy is a multifaceted, complex disease, so CureDuchenne has been working to “treat the whole disease,” with a multi-pronged approach to find treatments for the many effects that Duchenne has on the body. The ultimate goal is to offer cures for all patients. The exon-skipping drugs drisapersen and eteplirsen a...

Realizing the promise of gene therapy through collaboration and partnering: Pfizer’s view

Pfizer

Gene therapy is a promising approach to altering the genetic composition of cells as a way to correct disease causing mutations or to express proteins or RNA molecules that confer a therapeutic benefit. The concept of gene therapy is straightforward: deliver nucleic acids to target cells to alter their function in a beneficial manner. Moving from concept to reality, however, is a complex process comprised of multiple steps and components, incl...

Two foundations: One goal…to support Duchenne families

Little Hercules Foundation

Little Hercules Foundation and Team Joseph have a strong history of working together to fund promising research.  Recently, we decided that while we believe in the promise of future treatments, we also see the need to help families right now.  In this moment.  We identified two priorities—to offe...

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Moderate exercise improves function and increases adiponectin in the mdx mouse model of muscular dystrophy

Scientific Reports

The loss of dystrophin produces a mechanically fragile sarcolemma, causing muscle membrane disruption and muscle loss. The degree to which exercise alters muscular dystrophy has been evaluated in humans with Duchenne Muscular Dystrophy (DMD) and in mouse models including the mdx mouse but with inconsistent findings. We now examined two different levels of exercise, moderate and low intensity, in the mdx mouse model in the DBA2J background. mdx...

Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology

Journal of Neuromuscular Diseases

Representatives of academia, patient organisations, industry and the United States Food and Drug Administration attended a workshop on dystrophin quantification methodology. The aims of the workshop were to provide an overview of methods used to quantify dystrophin levels in human skeletal muscle and their applicability to clinical trial samples, outline the gaps with regards to validating the methods for robust clinical applications prior to...

A Review of MD STAR net’s Research Contributions to Pediatric-Onset Dystrophinopathy in the United States; 2002-2017

Journal of Child Neurology

Population studies of rare disorders, such as Duchenne and Becker muscular dystrophies (dystrophinopathies), are challenging due to diagnostic delay and heterogeneity in disorder milestones. To address these challenges, the Centers for Disease Control and Prevention established the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR net) in 2002 in the United States. From 2002 to 2012, MD STAR net longitudinally tracked th...

“Of Mice and Measures”: A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic First Workshop Report: Examining current findings and opportunities around the emerging D2.B10-Dmdmdx/J (D2/mdx) model in context of the classic C57BL/10ScSn-Dmdmdx/J (Bl10/mdx)

Journal of Neuromuscular Diseases

A new line of dystrophic mdx mice on the DBA/2J (D2) background has emerged as a candidate to study the efficacy of therapeutic approaches for Duchenne muscular dystrophy (DMD). These mice harbor genetic polymorphisms that appear to increase the severity of the dystropathology, with disease modifiers that also occur in DMD patients, making them attractive for efficacy studies and drug development. This workshop aimed at collecting and consolid...

Personalized gene and cell therapy for Duchenne Muscular Dystrophy

Neuromuscular Disorders

Dystrophinopathies are diseases caused by mutations in the Duchenne Muscular Dystrophy gene (DMD) encoding the dystrophin protein. Depending on the type of mutation, patients develop either the severe DMD or the milder Becker Muscular Dystrophy. Although substantial effort was made, the pathophysiology and variation in disease severity are still poorly understood. During the last two decades, relentless efforts were made to develop therapeutic...

Breathe Duchenne: what natural history studies tell us about the progression of pulmonary morbidity in DMD

Neuromuscular Disorders

“When you can’t breathe, nothing else matters”. This is not just a tagline used by the American Lung Association to raise awareness and save lives by improving lung health and preventing lung disease through education, advocacy and research. It resembles the clear and present danger faced by patients with progressive neuromuscular diseases. Duchenne muscular dystrophy (DMD) is the most common and devastating type of muscular dystroph...

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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.

A transition toolkit for Duchenne muscular dystrophy

Pediatrics

The care of individuals with Duchenne muscular dystrophy (DMD) now extends into adulthood. Childhood to adulthood transition planning is an important aspect of care, affecting health outcomes as well as other important aspects of adult life. In this article, we address transition planning as it relates to DMD health care, education, steps toward vocations, personal care, accessing the home and community, and the importance of relationships wit...

Primary care and emergency department management of the patient with Duchenne muscular dystrophy

Pediatrics

Primary care providers (PCPs) are usually the first point of contact with the health care system for patients with Duchenne muscular dystrophy (DMD), and patients often present to emergency departments in which providers have little experience in dealing with this condition. With this article, we give primary care and emergency medicine providers a background in the common issues that affect people with DMD. By acquiring some specialized knowl...

Orthopedic and surgical management of the patient with Duchenne muscular dystrophy

Pediatrics

Orthopedic care is an important aspect of the overall management of patients with Duchenne muscular dystrophy (DMD). In addition to progressive muscle weakness and loss of function, patients may develop joint contractures, scoliosis, and osteoporosis, causing fractures; all of these necessitate intervention by a multidisciplinary team including an orthopedic surgeon as well as rehabilitation specialists such as physio- and occupational therapi...

Cardiac management of the patient with Duchenne muscular dystrophy

Pediatrics

Duchenne muscular dystrophy (DMD) results in a progressive cardiomyopathy that produces significant morbidity and mortality. To improve the quality of life in patients with DMD, cardiac care is focused on surveillance and management, with the goal of slowing the onset and progression of heart failure complications. The current article is intended to be an expanded review on the cardiac management data used to inform the 2018 DMD Care Considera...

Respiratory management of the patient with Duchenne muscular dystrophy

Pediatrics

In 2010, Care Considerations for Duchenne Muscular Dystrophy, sponsored by the Centers for Disease Control and Prevention, was published in Lancet Neurology, and in 2018, these guidelines were updated. Since the publication of the first set of guidelines, survival of individuals with Duchenne muscular dystrophy has increased. With contemporary medical management, survival often extends into the fourth decade of life and beyond. Effective trans...

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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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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...

Duchenne Muscular Dystrophy: Clinical Features, Genetics, and Inheritance

Online Mendelian Inheritance in Man

Dystrophin-associated muscular dystrophies range from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy (BMD; 300376). Mapping and molecular genetic studies indicate that both are the result of mutations in the huge gene that encodes dystrophin, also symbolized DMD. Approximately two-thirds of the mutations in both forms are deletions of one or many exons in the dystrophin gene. Although there is no c...

Emerging drugs for duchenne muscular dystrophy

Canadian Agency for Drugs and Technologies in Health

Duchenne muscular dystrophy (DMD) is a rare and severe disorder that affects primarily young boys. It begins with progressive muscle weakness that evolves to loss of ambulation and further progresses to early morbidity and mortality. DMD is caused by a mutation of the dystrophin gene that results in a lack of dystrophin, a protein that is necessary for muscle cell function. The mainstays of current therapy to treat DMD are corticosteroids and ass...

Duchenne Muscular Dystrophy: A Book by StatPearls Publishing

StatPearls Publishing

This book deals with etiology, epidemiology, pathophysiology, histopathology, history and physical evaluation, treatment /management, differential diagnosis and prognosis of Duchenne muscular dystrophy (DMD) in brief. DMD is 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...

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