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About Muscular Dystrophies

Muscular dystrophies are diseases of the muscle characterized by muscle fiber degeneration and associated progressive muscle weakness. Muscular dystrophies are an inherited group of disorders, and include Duchenne and Becker, Emery Driefuss, limb-girdle, myotonic, facioscapulohumeral, and distal types. Duchenne and Becker muscular dystrophies are inherited in an X-linked recessive pattern.

About Duchenne

Duchenne muscular dystrophy is a progressive muscle disorder that causes loss of muscle function and independence. It is the most common fatal genetic disorder diagnosed during early childhood, and can occur during any pregnancy, regardless of family history. Because the affected gene is found on the X-chromosome, Duchenne manifests primarily in boys. It is found in all races and cultures, and affects approximately one out of every 3,500 boys (and 20,000 babies) born each year worldwide.

Signs of Duchenne

  • General weakness
  • Overdeveloped calves
  • Lordosis
  • Purple and/or cold feet
  • Joint and tendon cord elasticity problems
  • Speech/intellectual handicaps
  • Respiratory problems

Identifying Duchenne

Observation: Parents or teachers are often the first to notice the symptoms that indicate Duchenne, such as speech delay, enlarged calf muscles, and the inability to keep up with peers.

Tests/screens: Reliable tests help doctors officially diagnose a boy with Duchenne. These tests are typically used to confirm a preliminary diagnosis:

  • Creatine Kinase: Creatine Phosphate Kinase (also known as CPK or CK) is an enzyme that normally lives inside muscles. Boys with Duchenne often have CK levels 10 to 100 times the normal range. Elevated CK levels indicate muscle damage, although a high CK does not confirm a diagnosis of Duchenne.
     
  • Genetic Testing: Genetic testing (using blood cells or muscle cells) is the best way to obtain exact genetic information leading to a conclusive Duchenne diagnosis. The field of genetic testing is rapidly evolving, and there are several types of testing that offer an accurate genetic diagnosis. 

Visit ChildMuscleWeakness.org to learn about the early identification of muscle weakness, view a motor surveillance tool, and download a screening and referral algorithm.

Care Guidelines

The US Centers for Disease Control and Prevention selected 84 clinicians to develop care recommendations using the RAND Corporation-University of California Los Angeles Appropriateness Method. The DMD Care Considerations Working Group evaluated assessments and interventions used in the management of diagnostics, gastroenterology and nutrition, rehabilitation, and neuromuscular, psychosocial, cardiovascular, respiratory, orthopaedic, and surgical aspects of Duchenne. These recommendations, presented in two parts, are intended for the wide range of practitioners who care for individuals with Ducehnne. They provide a framework for identifying and managing the symptoms of Duchenne and for providing coordinated multidisciplinary care. Right now there are not separate recommendations for Becker muscular dystrophy.

Encourage your patients with Duchenne or Becker muscular dystrophy to register in the DuchenneConnect registry.

Download the Care Guidelines for Duchenne Muscular Dystrophy:

For Your Patients:

Imperatives for Duchenne Care: 

Imperatives for Duchenne MD (PDF) is very focused and very brief, and includes a snapshot of the imperative components of comprehensive Duchenne care as described in the Care Considerations. This information is meant for health care providers, but can also be used by patients and parent advocating for comprehensive Duchenne care for themselves or their children.

Resources for Providers

Duchenne can cause symptoms throughout the body. Explore PPMD's Areas of Care pages for more information on the effects of Duchenne on different body systems. Each of these pages also contains additional resources specific to those areas of care.

Resources for Physical Therapists

Physical therapy (PT) can increase and prolong mobility in Duchenne, and plays an important role monitoring and maintaining overall physical health.

  • Stretching tendons: Daily stretching exercises of three specific tendons (Achilles, Hamstring, Ileotibial bands) will extend ambulation.
     
  • Exercise: 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: A regimen of swimming and other water exercises (hydrotherapy) helps keep muscles lean and improves respiratory function without causing additional stress to the body. (Cardiac evaluation is recommended before beginning any form of hydrotherapy.)

Visit our Physical Therapy page for a list of helpful resources and in-depth information on how physical therapy relates to different stages of Duchenne.

Resources for Insurance Coverage & Access

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 and links to relevant publications and other resources.

PPMD Duchenne Clinician Care Conference

Save the date! This year, PPMD will be hosting our first Duchenne Clinician Conference, January 24-26, 2018 at the Marriott Harbor in Sanibel, FL.

This conference will provide up to date clinical education, resources, materials and networking, supporting your ability to provide the very best care to your patients and families living with Duchenne.

Our robust agenda will cover comprehensive care and services for Duchenne at all stages of the diagnosis, from screening to adulthood. We sincerely hope that you will join us for this unique educational and enjoyable opportunity!

 

 

Related links

Surgery & Anesthesia Precautions
Emergency Care Information
Care Guidelines (For Families & Patients)
Physical Therapy 

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