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A Guide for Parents: Duchenne Muscular Dystrophy UK

Muscular Dystrophy UK

Duchenne muscular dystrophy is a life-shortening muscle-wasting condition, caused by the lack of a vital muscle protein called dystrophin. The condition causes muscles to weaken and waste over time, leading to increasing and severe disability. Duchenne muscular dystrophy currently affects around 2,500 people in the UK and around 100 babies are born with the condition each year. It is caused by genetic mutations on the ‘X’ chromosome, me...

About Duchenne Muscular Dystrophy: Muscular Dystrophy UK

Muscular Dystrophy UK

“My son, Dan, was diagnosed with Duchenne muscular dystrophy when he was three years old. I know the diagnosis can be devastating. “Like we did, you may be wondering how you’ll ever come to terms with it. We found our own way of coping and you will too. What kept me going, was telling myself that he was still the same person, but now I knew something different about him. And if he felt OK, I could be OK. “One of the fir...

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...

Bone Health in Duchenne Muscular Dystrophy: For Parents

Parent Project Muscular Dystrophy

This information sheet is about bone health in people with Duchenne muscular dystrophy. It is written for parent and caregivers. Osteoporosis is a condition in which there is thinning of the bones (reduced bone mineral density, or BMD). When bones are less dense, they become weak and brittle, which can lead to fractures. People with Duchenne often develop osteoporosis due in part to lack of activity and as a side effect of steroid medication....

Bone Health in Duchenne Muscular Dystrophy: For Teens/Children

Parent Project Muscular Dystrophy

This fact sheet is about bone health in people with duchenne muscular dystrophy. You might want to start by reading the endocrine information sheet, which introduces you to some basic topics. When we say “you” in this fact sheet, we mean the person with duchenne. What is osteoporosis and what causes it? Strong bones need lots of physical activity, good nutrition, enough sunshine, and your growth and puberty hormones. Pe...

Care for the flu – Guidelines

Parent Project Muscular Dystrophy

Each year, everyone, six months of age and older, needs to be vaccinated against influenza (flu) by the end of October if possible. Protecting people living with Duchenne is especially important. A 2005 study done by the CDC found that children with neuromuscular disease are at a six-time greater risk of flu-related respiratory failure. So please vaccinate yourself, your child, and all members of your family.  There are different types...

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“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...

A current approach to heart failure in Duchenne muscular dystrophy

Heart (British Cardiac Society)

Duchenne muscular dystrophy (DMD) is a genetic, progressive neuromuscular condition that is marked by the long-term muscle deterioration with significant implications of pulmonary and cardiac dysfunction. As such, end-stage heart failure (HF) in DMD is increasingly becoming the main cause of death in this population. The early detection of cardiomyopathy is often challenging, due to a long subclinical phase of ventricular dysfunction and difficul...

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...

Achievement of Virtual and Real Objects Using a Short-Term Motor Learning Protocol in People with Duchenne Muscular Dystrophy: A Crossover Randomized Controlled Trial

Games for Health Journal

Objective: To evaluate whether people with Duchenne muscular dystrophy (DMD) practicing a task in a virtual environment could improve performance given a similar task in a real environment, as well as distinguishing whether there is transference between performing the practice in virtual environment and then a real environment and vice versa. Methods: Twenty-two people with DMD were evaluated and divided int...

Advances in the Treatment of Duchenne Muscular Dystrophy: New and Emerging Pharmacotherapies

Pharmacotherapy

Duchenne muscular dystrophy (DMD) is a genetic neuromuscular disease that primarily affects young males. Patients with DMD are unable to produce dystrophin, a crucial protein found in myocytes, leading to a loss of muscle support and integrity. Corticosteroids are the standard supportive treatment for DMD; however, there is a high demand to expand the number of safe, effective pharmacologic options. Recently a surge of new therapeutics for DMD is...

Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy

Disease Models & Mechanisms

Duchenne muscular dystrophy (DMD) is a progressive muscle-wasting disorder. It is caused by loss-of-function mutations in the dystrophin gene. Currently, there is no cure. A highly promising therapeutic strategy is to replace or repair the defective dystrophin gene by gene therapy. Numerous animal models of DMD have been developed over the last 30 years, ranging from invertebrate to large mammalian models. mdx mice are the most commonly employed...

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2018 Duchenne Care Considerations

TREAT-NMD

It is recognized that receiving the best care can dramatically improve the quality of life and life expectancy of individuals with DMD, enabling them to lead fulfilling, independent lives into adulthood. The importance of care recommendations such as these therefore cannot be underestimated. The international guidelines, which cover the diagnostics, cardiovascular, neuromuscular, gastroenterology/nutrition, orthopaedic/surgical, psychosocial, reh...

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...

An introduction to the Duchenne muscular dystrophy care considerations

Pediatrics

In 2010, Bushby et al published the first-ever international comprehensive guidance on the diagnosis and management of patients with Duchenne muscular dystrophy (DMD) for practitioners. These recommendations were instrumental in raising awareness about the scope of the clinical care issues affecting boys and men with DMD and in initiating discussion around the world about the need to improve the quality and standardization of...

Ataluren for treating Duchenne muscular dystrophy with a nonsense mutation in the dystrophin gene

National Institute for Health and Care Excellence

This guidance is not intended to affect the position of patients whose treatment with ataluren was started within the NHS before this guidance was published. Treatment of those patients may continue without change to whatever funding arrangements were in place for them before this guidance was published until they and their NHS clinician consider it appropriate to stop.

Bone and Joint Care: Contractures, Scoliosis, and Fractures

Parent Project Muscular Dystrophy

Orthopedics is the subspecialty that offers surgical and non-surgical devices and procedures to help keep the bones in their proper position and alignment. Orthopedists work closely with physical therapists, physical medicine and rehabilitation specialists (PM&R, “physiatrists”), and orthotists (specialists who make splints and braces). There are several issues that can arise in duchenne that may benefit from the services of orthopedics....

Bone health and osteoporosis management of the patient with Duchenne muscular dystrophy

Pediatrics

Duchenne muscular dystrophy is associated with an increased risk of bone fragility due to the adverse effects of prolonged glucocorticoid therapy and progressive muscle weakness on bone strength. Osteoporosis manifests clinically as low-trauma long-bone and vertebral fractures (VFs), with VFs frequent, particularly in those treated with glucocorticoid therapy. It is increasingly recognized that bone pain, medical complications of osteoporosis...

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A Comparison of the Effects of Deflazacort and Prednisone Versus Placebo on Timed Functional Tests in Boys with Duchenne Muscular Dystrophy

American Academy of Neurology

Objective: To describe the timed motor performance of standing from lying position, climbing 4 stairs, and running or walking 30 feet in patients taking deflazacort, prednisone, or placebo. Background: The measurement of timed functional tests (TFTs) are commonly used to evaluate children with Duchenne muscular dystrophy (DMD). As muscle weakness progresses, compensatory movements are used to perform the tas...

A dedicated electrical impedance myography device in the assessment of Duchenne muscular dystrophy

American Academy of Neurology

Objective: To evaluate the sensitivity to disease progression of Duchenne muscular dystrophy (DMD) of a dedicated electrical impedance myography (EIM) device. Background: Recent work in DMD has shown that EIM is sensitive to disease progression and the therapeutic benefit of corticosteroids. Most work to date has used custom-designed, off-the-shelf impedance devices and has been performed at a single center....

A phase 2 trial of the safety and pharmacokinetics of ataluren in patients aged 2 to 5 years with nonsense mutation Duchenne muscular dystrophy

Neuromuscular Disorders

Nonsense mutation Duchenne muscular dystrophy (nmDMD) is a rare, X-linked genetic disorder that results in a decline in function, loss of ambulation and early death due to respiratory or cardiac failure. Ataluren is conditionally approved by the European Medicines Agency for the treatment of ambulatory patients aged >= 5 years with nmDMD. Initiation of treatment prior to substantial muscle loss may maximize benefit. It is therefore important t...

A Pilot Study to Evaluate Adherence to the 2010 Care Considerations for Duchenne Muscular Dystrophy (DMD) at Selected Clinics Identified by the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) Sites. Phase 1:Clinic Director Survey

American Academy of Neurology

Objective: To evaluate adoption of the Care Considerations for DMD through a pilot survey of clinic directors identified by the MD STARnet sites. Background: Care recommendations for the management of patients with Duchenne Muscular Dystrophy (DMD) were developed by an international panel of experts convened and supported by the Centers for Disease Control and Prevention (CDC) and published in 2010. In 2013,...

A Pilot Study to Evaluate Adherence to the 2010 Care Considerations for Duchenne Muscular Dystrophy at Selected Clinics Identified by the Muscular Dystrophy Surveillance Tracking and Research Network (MDSTARnet) Sites. Phase 2: Data from Medical Record Abstraction

American Academy of Neurology

Objective: To evaluate through abstraction of medical records adherence to current DMD care recommendations by a group of clinics associated with MDSTARnet. Background: Care recommendations for the management of patients with Duchenne Muscular Dystrophy (DMD) were developed by an international panel of experts convened and supported by the Centers for Disease Control and Prevention (CDC) and published in 201...

Analysis of mortality in a cohort of adult Duchenne muscular dystrophy

Neuromuscular Disorders

Duchenne muscular dystrophy (DMD) survival has substantially improved in recent years with mean life expectancy at 29 years and a growing number surviving into fourth and fifth decades. However, despite this, premature deaths still occur and the most common reported cause is cardiomyopathy. The aim of this retrospective data collection study was to gain a better understanding of premature mortality in DMD and identify potential avoidable risk fac...

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DMD Gene: Dystrophin

Genetics Home Reference

DMD, the largest known human gene, provides instructions for making a protein called dystrophin. This protein is located primarily in muscles used for movement (skeletal muscles) and in heart (cardiac) muscle. Small amounts of dystrophin are present in nerve cells in the brain. In skeletal and cardiac muscles, dystrophin is part of a group of proteins (a protein complex) that work together to strengthen muscle fibers and protect them f...

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: 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...

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...

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.

 

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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