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Duchenne Siblings: A Vital Part of the Hero Team

Duchenne Siblings: A Vital Part of the Hero Team I witness bravery every single day. I watch my two sons fight a degenerative muscle disease called Duchenne. I watch them struggle to do simple things that most people take for granted. I could go on and on about how courageous my...

I’m a Duchenne Dad

The morning of November 16, 2002, we received a phone call from our son’s pediatrician confirming that our only child has Duchenne Muscular Dystrophy. Six years earlier, my wife Debra and I were preparing for the arrival of our son, Hawken. As first time parents, Debra and I enjoyed our time together talking...

The Time is Now – Insight from National Organization for Rare Disorders Rare Summit

The Time is Now! Insight from the National Organization for Rare Disorders Rare Summit As CureDuchenne’s advocacy leader, I was happy to attend NORD’s Rare Diseases & Orphan Products Breakthrough Summit on October 21 and 22 in Washington, DC. The conference was fas...

Dream Fulfillment

Dream Fulfillment Yesterday, former President Jimmy Carter visited Nashville to participate for the week in a multiple home Habitat for Humanity build. He asked fellow workers in prayer to examine what they each needed in life to feel happy and fulfilled....

CureDuchenne Biobank

CureDuchenne Biobank CureDuchenne has made a significant commitment to develop and maintain a biobank dedicated to Duchenne muscular dystrophy — the CureDuchenne Biobank. The CureDuchenne Biobank will help clinicians and researchers spend their time doing what they do best —...

Thank you for registering for FUTURES. See you… in Anaheim?!

Overwhelmed and frustrated, I again sat at my computer looking for guidance and resources to help meet the increasing needs of my twenty three year old son Blakley, who lives with Duchenne. The list is daunting: medical equipment, a new mattress, a ramp, out of state care, physical therapy, a van to transport him, …and these are the things not covered by Medicaid. Most days,...
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Adrenal Suppression From Long Term Use of Steroid in Duchenne Muscular Dystrophy (DMD)

NHS Greater Glasgow & Clyde
Doctors and nurses prescribe steroid medicines for boys with DMD as they have been shown to improve muscle strength. Steroid medicines can also protect the heart and lungs and reduce the chances of developing a curved spine (scoliosis). ...

Transition to Adult Services: Duchenne Muscular Dystrophy

Scottish Muscle Network
This leaflet has been produced by the Scottish Muscle Network to help young people, families and other professionals involved to understand the particular needs of the young person around health care at the time of transition to adult services. The pediatrician and other children’s healthcare professionals involved will discuss referrals to adult services and make sure these a...

Information Leaflet for Patients and Families: Duchenne Muscular Dystrophy

NHS Foundation Trust
DMD is a very serious condition that affects about 1 in every 3500 male births in the UK. DMD affects all the muscles of the body, causing them to become weaker over time. Boys with DMD usually begin having difficulty in walking by the age of 3 years and are unable to run and jump like their peers. They often struggle to climb stairs and get up from the floor. Some boys also have mild learning difficulties or behavioural problems. By t...

A Message from Debra Miller, Founder and CEO CureDuchenne

CureDuchenne
Receiving the diagnosis for Duchenne was the scariest time of my life and I know all about the emotions you are feeling. Equipping yourself with the knowledge you need to get the best care for your child is the best thing you can do. Connecting with other families who are going through the same thing can be incredibly helpful as well. Once I had the confidence that I was going down the right path of care for my son, I founded the nonpr...

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...
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One-Year Follow Up of Three Italian Patients With Duchenne Muscular Dystrophy Treated With Ataluren: Is Earlier Better?

Therapeutic Advances in Neurological Disorders
Background: Ataluren was approved for the treatment of nmDMD, both the efficacy and safety have been previously reported only from clinical trials but no report exists about real-life experience. Patient/Methods: We describe three Italian children with nmDMD treated with ataluren for 1 year. Measurements were made e...

Cardiac MRI Biomarkers for Duchenne Muscular Dystrophy

Biomarkers in Medicine
Duchenne muscular dystrophy (DMD) is a fatal inherited genetic disorder that results in progressive muscle weakness and ultimately loss of ambulation, respiratory failure and heart failure. Cardiac MRI (MRI) plays an increasingly important role in the diagnosis and clinical care of boys with DMD and associated cardiomyopathies. Conventional cardiac MRI biomarkers permit measurements of global cardiac function and presence of...

Liposomal Steroid Nano-Drug is Superior to Steroids as-is in MDX Mouse Model of Duchenne Muscular Dystrophy

Nanomedicine : Nanotechnology, Biology, and Medicine
Glucocorticosteroids are the most efficacious anti-inflammatory agents and the gold standard treatment in Duchenne muscular dystrophy (DMD). However, their chronic use may lead to severe side effects. We evaluated the use of a novel injectable steroidal nano-drug in mdx mouse model of DMD by comparing the efficacy of nano-liposomes remotely loaded with the steroid prodrug, methylprednisolone hemisuccinate (MPS) with the same...

Applications of CRISPR/Cas9 for the Treatment of Duchenne Muscular Dystrophy

Journal of Personalized Medicine
Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive neuromuscular disease prevalent in 1 in 3500 to 5000 males worldwide. As a result of mutations that interrupt the reading frame of the dystrophin gene (DMD), DMD is characterized by a loss of dystrophin protein that leads to decreased muscle membrane integrity, which increases susceptibility to degeneration. CRISPR/Cas9 technology has ga...

Role of Neuronal Nitric Oxide Synthase (nNOS) in Duchenne and Becker Muscular Dystrophies – Still a Possible Treatment Modality?

Neuromuscular Disorders : NMD
Neuronal nitric oxide synthase (nNOS) is involved in nitric oxide (NO) production and suggested to play a crucial role in blood flow regulation of skeletal muscle. During activation of the muscle, NO helps attenuate the sympathetic vasoconstriction to accommodate increased metabolic demands, a phenomenon known as functional sympatholysis. In inherited myopathies such as the dystrophinopathies Duchenne and Becker muscle dystro...

Identification of Duchenne/Becker Muscular Dystrophy Mosaic Carriers Through a Combined DNA/RNA Analysis

Prenatal Diagnosis
Objective The Duchenne/Becker muscular dystrophy (DMD) carrier screening includes the evaluation of mutations in DMD gene, and the most widely used analysis is the multiplex ligation‐dependent probe amplification (MLPA) for the DMD deletions/duplications detection. The high frequency of de novo mutations permits to estimate a risk up to 20% of...
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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 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...

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...
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