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2018 DMD Care Considerations Family Guide

Muscular Dystrophy Association (MDA), Parent Project Muscular Dystrophy(PPMD), TREAT-NMD, World Duchenne Organization

This Family Guide will provide you with basic information to allow you to participate effectively in the process of obtaining comprehensive care. Your NMS must be aware of all potential issues in Duchenne and must have access to the interventions that are the foundations for appropriate care and input from essential subspecialties. As you age, the emphasis of some interventions, as well as the inclusion of some subspecialists, will change. The...

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...

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...

Carrier detection tests and prenatal diagnosis

Muscular Dystrophy UK

There are several types of muscular dystrophy and about 50 neuromuscular conditions, all of which fall under the umbrella of the Muscular Dystrophy Campaign. If you have a relative with one of these conditions and are hoping to start a family, you may want to know the answers to two important questions: -Am I a carrier of the condition? -Will my children be affected? The answers will vary according to the type of muscular dystrophy or rela...

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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...

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...

Application of the International Classification of Functioning, Disability and Health system to symptoms of the Duchenne and Becker muscular dystrophies

Disability and Rehabilitation

Purpose: Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are X-linked recessive diseases that affect dystrophin production resulting in compromised muscle function across multiple systems. The International Classification of Functioning, Disability and Health provides a systematic classification scheme from which body functions affected by a dystrophinopathy can be identified and used to...

Aquatic therapy for boys with Duchenne muscular dystrophy (DMD): an external pilot randomised controlled trial

Pilot and Feasibility Studies

Background: Standard treatment of Duchenne muscular dystrophy (DMD) includes regular physiotherapy. There are no data to show whether adding aquatic therapy (AT) to land-based exercises helps maintain motor function. We assessed the feasibility of recruiting and collecting data from boys with DMD in a parallel-group pilot randomised trial (primary objective), also assessing how intervention and trial procedures work....

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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...

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....

Compliance to Care Guidelines for Duchenne Muscular Dystrophy

Journal of Neuromuscular Diseases

Background: International care guidelines for Duchenne muscular dystrophy (DMD) were published in 2010, but compliance in clinical practice is unknown. Objective: The objective of our study was to compare real-world DMD care in Germany, Italy, the UK, and the US with the clinical recommendations. Methods: DMD patients from Germany, Italy, the UK, and the US were identified through Transl...

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

The Lancet Neurology

Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life. In 2014, a steering committee of experts from a wide range of disciplines was established to up...

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

The Lancet Neurology

A coordinated, multidisciplinary approach to care is essential for optimum management of the primary manifestations and secondary complications of Duchenne muscular dystrophy (DMD). Contemporary care has been shaped by the availability of more sensitive diagnostic techniques and the earlier use of therapeutic interventions, which have the potential to improve patients’ duration and quality of life. In part 2 of this update of the DMD care conside...

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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

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 from inju...

Duchenne Muscular Dystrophy

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 l...

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...

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...

Muscular Dystrophy, Duchenne Type; DMD

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 clear cor...

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