For Healthcare Providers
Care for people living with Duchenne includes a multidisciplinary team of professionals providing coordinated, comprehensive care. While the Duchenne Care Considerations offer details of the surveillance and management of each medical subspecialty area of care, PPMD has additional tools and resources that may be helpful to you. Please let us know if there are tools and/or resources that you do not see, that you feel might be helpful.
About Duchenne & Becker Muscular Dystrophy
Duchenne muscular dystrophy is a genetic disorder characterized by the progressive loss of muscle. It is a multi-systemic condition, affecting many parts of the body, which results in deterioration of the skeletal, cardiac, and pulmonary muscles. It affects approximately 1 out of every 5,000 live male births. About 20,000 children are diagnosed with Duchenne globally each year.
Duchenne is a “dystrophinopathy,” and is one of two diagnoses (Duchenne and Becker muscular dystrophy) that is caused by a mutation in the gene that encodes for a protein called dystrophin. Without dystrophin, muscles are not able to function or repair themselves properly. Becker muscular dystrophy, which is less severe than Duchenne, occurs when dystrophin is manufactured, but not in the normal form or amount.
Because the Duchenne gene is found on the X-chromosome, it primarily affects males, while females are typically carriers. However, some females can manifest varying ranges of physical symptoms of Duchenne and are therefore called “manifesting carriers”.
PPMD’s mission and work extends to all of the dystrophinopathies (both Duchenne and Becker), but for simplicity we primarily refer to Duchenne.
The Duchenne Timeline video is a brief, 4 minute video depicting the natural progression of the progressive symptomatology of this diagnosis. This video might be useful in the description of this diagnosis to medical professionals new to this area of care.
PPMD Programs & Resources
Certified Duchenne Care Centers
PPMD’s network of Certified Duchenne Care Centers are centers that are capable of providing comprehensive Duchenne care in agreement with the Care Considerations (see ‘Caring for Duchenne’, below). Each of these centers include sub-specialists with Duchenne expertise across the spectrum and lifespan of the disease. These centers exist as a resource to both you and your families. If you need assistance in accessing the Certified Duchenne Care Center network, a center in your area, or have questions/need resources that you are having difficulty accessing, please contact PPMD.
Is your center interested in becoming a Certified Duchenne Care Center? Review the CDCC Program Requirements for Care and Services (PDF) to determine your eligibility. To learn more about PPMD’s Certified Duchenne Care Center Program, please contact Kathi Kinnett at firstname.lastname@example.org.
Decode Duchenne: Genetic Testing & Counseling
PPMD’s Decode Duchenne program provides free genetic testing and counseling to people with Duchenne or Becker muscular dystrophy who otherwise could not afford genetic testing. The application and testing process is fast and easy, and includes interpretation of results and counseling. Learn more about PPMD’s Decode Duchenne program.
The Duchenne Registry
The Professional Portal of The Duchenne Registry is designed for researchers, clinicians, policymakers, and industry professionals. Key features include:
- Access to data from The Duchenne Registry
Registered professionals have access to de-identified aggregate data from The Duchenne Registry. Registered professionals can also perform basic searches of the Registry in order to identify target populations for trial/study planning and recruitment.For more advanced searches of the Registry data, or to obtain raw exports of the Registry data, please contact the Duchenne Registry Coordinators at email@example.com or 888-520-8675.
- Access to recruitment services through The Duchenne Registry
A key goal of the Registry is to assist clinicians, researchers and pharmaceutical companies in developing new clinical trials and research studies for Duchenne and Becker and recruiting for those trials/studies. The Registry Coordinator can target select subpopulations within the Registry who appear to match inclusion criteria for a specific trial/study. Learn more.
Please note that all trials/studies must be IRB-approved or human subjects/ethics committee-approved. For more information about our recruitment services, please contact the Duchenne Registry Coordinators at firstname.lastname@example.org or 888-520-8675.
Insurance Access and Coverage Resources
We have all had frustrations getting healthcare paid for, whether it is getting access and coverage for appointments, procedures, equipment, and/or medications. Coverage is especially difficult when new medicines or procedures are recommended. Parents, patients, and medical providers spend hours putting together documents and speaking on the phone trying to convince payers that this is what is needed to keep us, our children, or our patients, as healthy as possible. To make this process easier, PPMD has assembled resources that will help families and medical providers at each stage of the healthcare access process. Click here for a road map aimed at guiding you through this complex process – complete with sample letters of medical necessity and letters of appeal for both durable medical equipment (DME) and approved medications, as well as links to relevant publications and other resources.
2018 Duchenne Clinician Conference Presentations
PPMD’s Duchenne Clinician Conference is designed for healthcare professionals and clinical researchers. Our 2018 conference centered around: 1) presenting best practices in care and treatment of patients with Duchenne muscular dystrophy; 2) providing updates on the most promising near and long term cutting-edge therapies; and 3) creating networks of interprofessional colleagues for continued support and work in the field, which is vital to advances in treatment and care of Duchenne, and contributes to the ‘hub and spoke’ model of care. View agenda topics and presentations from this conference.
Signs and Symptoms of Duchenne
Identifying neuromuscular diagnoses can be difficult. The signs may be subtle variants of normal behavior and development, and may be hard to discern. PPMD worked with the Center for Disease Control and Prevention (CDC) to develop ChildMuscleWeakness.org, a tool to enable medical professionals to recognize the possible signs of neuromuscular disorders and to seek diagnosis.
In Duchenne muscular dystrophy, signs and symptoms often begin in early infancy. Delayed milestones such as sitting, walking and talking are the most noticeable, but there are other signs and symptoms as well. Learn more about the signs and symptoms of Duchenne.
If your family is still in the observation stage, the American Academy of Pediatrics has developed the Physical Developmental Delays: What To Look For tool to help parents know if and when to seek additional advice and testing for their child.
How to Diagnose Duchenne
- Order a CK: If you have any suspicion that your patient may have gross motor or speech delay, draw a CK.
- Genetic testing: If an elevated CK is discovered, the second step in diagnosis is genetic testing, which is the best way to obtain exact genetic information for a conclusive Duchenne diagnosis. This can be initiated by either the primary care provider or before/after a referral to a pediatric neurologist familiar with Duchenne (for a list of PPMD Duchenne Care Centers, click here). PPMD has a genetic testing program called Decode Duchenne that provides free genetic testing and counseling eligible individuals (see ‘Decode Duchenne: Free Genetic Testing for Duchenne & Becker’, below, for more information)
- Elevated liver enzymes: due to the metabolism by the liver of muscle breakdown that occurs in Duchenne, liver enzymes in this disease (AST, ALT) are always elevated. These elevated enzymes are indicative of Duchenne, not of liver dysfunction. For this reason, further evaluation of liver function (i.e., liver biopsy, referral) in generally not necessary.
Supporting a Diagnosis of Duchenne
Delivering difficult diagnoses is, well, difficult. PPMD has developed some tools that we hope will be helpful.
- Delivering the Diagnosis: PPMD convened a meeting of parents and professionals to discuss suggestions for professionals to assist in delivering this diagnosis to families, and to begin to help families adapt to this devastating diagnosis. The resulting summary article from this meeting, Facilitating family adjustment to a diagnosis of Duchenne, may be helpful for you.
- Materials for Families: We know that this devastating diagnosis is stressful for parents. To help relieve that stress, and to give parents enough, but not too much information, we have a section on the PPMD website specifically for families who have been recently diagnosed. Here we have provided tools to manage the first 30 days, identify what parents need to know now, and how they can get support.
- Obtaining Comprehensive Care: PPMD’s network of Certified Duchenne Care Centers are centers that are capable of providing comprehensive Duchenne care in agreement with the Care Considerations (see ‘Caring for Duchenne’, below). Each of these centers include sub-specialists with Duchenne expertise across the spectrum and lifespan of the disease. These centers exist as a resource to both you and your families. If you need assistance in accessing the CDCC network, a center in your area or have questions/need resources that you are having difficulty accessing, please contact PPMD.
Caring for Duchenne
Care Consideration Guidelines
The Center for Disease Control and Prevention (CDC) released their initial guidelines for the care of people living with Duchenne in 2010, and their updated guidelines in 2018. These comprehensive guidelines, known as the “Care Considerations,” can be found in 3 volumes of The Lancet, linked to on our Care Guidelines page. A “family-friendly” guide for patients can be found here as well.
PPMD, UPPMD and TREAT NMD worked to create a one-page description of care, called the Imperatives of DUCHENNE MD. This document is intended as a snapshot of care, helpful for medical providers who may not be familiar with this diagnosis. The Imperatives in English, can be found on our Care Guidelines page. The translated versions of the Imperatives can be found on the TREAT NMD website.
Neuromuscular care should begin at diagnosis and continue throughout the lifespan. In order for comprehensive care to remain integrated, the neuromuscular specialist (NMS) should function as the lead clinician and, with a care coordinator, weave care and communication together for the family, PCP, local providers and the neuromuscular care team.
In addition to organizing comprehensive care, there are a number of areas that the NMS generally assumes responsibility for.
Steroids remain the current gold standard for Duchenne treatment. Guidelines for steroid use and management can be found on the steroids care page.
Patients taking chronic daily steroids are often found to have ineffective cortisol coverage, which can lead to adrenal crisis, in the case of a severe injury or illness, or during a surgical experience. The PJ Nicholoff Steroid protocol was developed, and published, to address all issues around steroid associated issues. This protocol includes:
- Defining HPA suppression in a patient using corticosteroids (which patients are likely to be suppressed and which are not)
- Appropriate corticosteroid stress doses for minor, moderate, and major stressors
- Recommendations for corticosteroid withdrawal
- How to test the HPA axis for continued suppression
- Symptoms of adrenal crisis
- Tests that can help diagnose adrenal crisis
- Corticosteroid conversions/equivalent doses
A video describing both the development of this protocol, as well as the need for transition care in Duchenne, can be found here: VIDEO: PJ Nicholoff Steroid Protocol
Explaining Missed Steroid Doses with families
Why does it matter if a dose of corticosteroids is missed?
When a person takes regular doses of corticosteroids, the adrenal glands become inactive – because the body realizes the cortisol is coming from elsewhere (from oral corticosteroids), the adrenal glands do not need to release cortisol, so they temporarily stop doing so. This disables the HPA axis and the body’s ability to deal with stress. For this reason, it is important that people taking corticosteroid not miss their doses for more than 24 hours. They may also need a higher dose, or a “stress dose,” of corticosteroids with extreme stress, such as severe illness, surgery, or trauma.
What happens if the body doesn’t have enough cortisol?
There are really only three ways a person who takes corticosteroids regularly would not have an appropriate level of cortisol in their body:
- The corticosteroid dose was purposefully not given or received (i.e., patient or parent decides to abruptly discontinue steroids)
- The corticosteroid dose was accidentally not given (i.e., vomiting >24 hours, hospitalization without continuation of medication, etc.)
- The corticosteroid dose is not adequate to provide the body with enough energy during a stressful event (i.e., surgery, severe illness, etc.)
Not having appropriate levels of cortisol in the body, daily or during episodes of “stress,” can cause the body to experience symptoms of acute adrenal insufficiency, or adrenal crisis, which can be life-threatening.
Vaccinations should also be up to date, as a rule and prior to starting steroids. PPMD worked with the CDC to develop vaccination guidelines for people living with Duchenne, including recommendations around steroid use. Those recommendations can be found on our Vaccinations page.
Medical Alert IDs
Many families ask about medical alert jewelry. Learn more about the important medical information PPMD recommends engraving.
Physical Therapy, Rehabilitation, and Orthopedics
From diagnosis, Physical Therapy is important to the maintenance, and enhancement of function, strength and range of motion. Obtaining longitudinal measurements of these parameters, using consistent evaluation tools, is critical. We have created resources that will help you to educate yourself, your colleagues and your families in the provision of this important aspect of care.
Physical Therapy and Stretching
The recommendations for physical therapy in Duchenne are much different that in diagnosis where the goals are improving strength and function. In Duchenne, the goals are preserving strength and function, and maintaining range of motion. The specifics of how to both provide physical therapy to families, and teach families to provide stretching at home, can be found on our physical therapy page.
A common request from families is what is appropriate exercise, what might cause harm and how active should I safely let my child be?
- Exercise can help young men by building skeletal muscles and improving physical and overall health. Keep in mind that too much exercise can harm the muscles; never let a boy with Duchenne exert himself to the point of exhaustion.
- Swimming is the very best form of therapy. The professionals at Wave Therapies can help you to develop an appropriate program for your patients and families.
Clinical Trial Outcome Measure Demonstrations
There are several PT measures that are used widely in the evaluation of clinical trials. Two of those measures are the North Star Ambulatory Assessment (NSAA) and the Performance of Upper Limb (PUL). A group of PT’s who are global experts in clinical trial outcome assessment, together determined the best methods for obtaining the NSAA and the PUL. Videos of these 2 outcome measures may be appropriate to share with professionals expected to obtain these measures, as well as with parents/children who will be expected to perform these measures. Videos describing the performance and evaluation of these measures can be found here:
There are several unique orthopedic complications that occur in Duchenne. These issues, as well as surveillance, management and prevention, are included in this 1 hour webinar: VIDEO: Orthopedic Complications in Duchenne Webinar as well as on the care pages addressing orthopedic issues.
Cardiac care should begin with diagnosis and extend throughout the lifespan. The recommendations for cardiac care across the lifespan can be found on our Cardiac care page.
Many families are unsure what medications are needed or, if they have been prescribed, the reason for those medications. Here is a list of recommended medications for heart failure.
Meetings and Publications
PPMD has convened several meetings around the surveillance of cardiomyopathy and the management of heart failure. Information regarding recommendations for cardiac care can be found here.
- In 2014, PPMD and the National Heart Lung and Blood Institute convened a meeting evaluating Contemporary Issues in Duchenne Cardiology. The summary of that meeting was published, and can be found here. The results informed the CDC Cardiac Care recommendations.
- In 2016, a second meeting discussing the progression of Duchenne cardiomyopathy presenting with chest pain and troponin elevation was convened. A case study of patients from one institution was published and can be found here.
- A two-year study described in a new paper titled “Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy” substantiates those recommendations. The randomized study of 76 Duchenne (70) and Becker (6) patients showed the importance of cardiac MRI in detecting cardiac fibrosis and demonstrated that starting ACE inhibitor therapy significantly slowed the progression of fibrosis, thus preserving cardiac function longer. Because fibrosis occurs much sooner than cardiac dysfunction, and because it is not possible to see fibrosis by imaging the heart with echosonography, we hope that this paper will further validate the need for at least annual cardiac surveillance using MRI in patients living with Duchenne or Becker.
Pulmonary care should begin at diagnosis and continue throughout the lifespan. Specific recommendations for pulmonary surveillance and management can be found here.
- When patients go to the emergency room, or are admitted for surgery, this short, one page medical history sheet may help to guide their pulmonary management.
- The management of colds and flu are a huge concern for this population. This page describes when and how to use an assisted cough/cough assist machine and when to be concerned. A page discussing how to manage the flu in Duchenne can be found here.
- PPMD developed this 4 part webinar series to describe pulmonary care across the lifespan. This is an especially good tool for educating students, fellows and faculty/staff new to working with families living with Duchenne.
- No one wants to unnecessarily come to the emergency room. This article describes the steps to using assisted cough/cough assist to help to avoid an emergency room visit and/or a hospital admission.
- Annually, PPMD updates the CDC recommendations for the influenza vaccine. Here are the recommendations for 2017.
- PPMD convened a meeting to discuss and identify appropriate pulmonary outcome measures for use in Duchenne clinical trials in 2016. A publication of that meeting can be found here: 28636407
Endocrine and Bone Health
Endocrine care includes care for growth, puberty and bone health. Each of those sections can be found on these pages:
PPMD convened a meeting to discuss osteoporosis and Bone Health in Duchenne. The published summary of that meeting can be found here: 28756052.
Fat Embolism Syndrome
Although rare, fat embolism syndrome (FES) should be considered if shortness of breath or neurological symptoms develop after falls, fractures, or other trauma. More information on the diagnosis and management of FES, can be found here.
An important part of comprehensive care includes addressing the psychosocial issues important to the mental and emotional health of both patients and families. While many patients will have no issues at all, many will have behavior, emotional, learning and relationship issues that will need to be addressed at different times in life.
A discussion of psychosocial care can be found in the Learning & Behavior section of our website. References that include both professional and family education and resources include:
Tools for Mental Health Evaluation
Referenced in “The Diagnosis and Management of Duchenne Muscular Dystrophy: Part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan” [PDF] are several professional tools to assist in the evaluation of psychosocial issues.
- Strengths and Difficulties Questionnaire: Evaluation of mental health issues in children (Goodman R. The strengths and difficulties questionnaire:a research note. J Child Psychol Psychiatry 1997; 38: 581–86.)
- Personal Adjustment and Role Skills Scale (PARS III): For parents of patients ages 5-7years old
- Patient Health Questionnaire, 9 items (PHQ 9): For adults; 9 questions to evaluate depression (Kroenke K, Spitzer RL, Williams JB. The PHQ9: validity of a brief depression severity measure. J Gen Intern Med 2001; 16: 606–13. )
- Generalized Anxiety Disorder, 7 items (GAD-7): For adults; 7 questions to evaluate anxiety (Spitzer RL, Kroenke K, Williams JB, Lowe B. A brief measure for assessing generalized anxiety disorder: the GAD7. Arch Intern Med 2006; 166: 1092–97.)
Any positive findings should elicit a referral to a professional who can formally assess and treat the patient and family. Each center evaluating mental health should have a plan to address suicidality, should the need arise.
Normal health issues in Duchenne can quickly turn into emergencies. There are several areas of emergency care that are specific to Duchenne. Please refer to these pages for each of these areas: