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Primary Care Physicians and Pediatricians Play a Crucial Role in DMD Care

First to Identify DMD

The primary care physician or the pediatrician is often the first healthcare professional to identify signs suggestive of DMD, and the first person who tells the family about a suspected DMD diagnosis. The diagnosis will usually be confirmed by a neurologist or neuromuscular specialist.1

Effective Communication is Key

Having direct but compassionate conversations with patients and their families can go a long way toward reassuring them, especially when first discussing a possible DMD diagnosis. Your patients with DMD may also need a large, interdisciplinary care team, and you are a critical part of that team. You can help your patients by staying engaged with the rest of the team and/or the care coordinator.

Tools and Resources

 

Genetic Testing Resources

  • Decode Duchenne provides no-cost genetic testing, interpretation, and counseling through PPMD and PerkinElmer
  • Detect MD offers no-cost genetic testing, interpretation, and counseling through Invitae

Information About DMD Diagnosis, Care, and Management

American Academy of Pediatrics (AAP)

Includes educational webinars, policy statements, and resources for DMD.

NORD [National Organization of Rare Diseases] Online Physician Guides

Provides resources for clinicians about specific rare disorders (including DMD) to facilitate the timely diagnosis and treatment of their patients.

Pediatrics, Journal of the American Academy of Pediatrics (AAP)

Pediatrics is an official peer-reviewed journal of the American Academy of Pediatrics (AAP). There is content available that covers a range of specialty areas, including cardiology, osteopathic care, nutrition, and psychosocial therapy for patients with DMD.

Pediatric Care Online

This resource, provided by the American Academy of Pediatrics (AAP), provides up-to-date clinical information on pediatric care that is continually reviewed and updated. Subscription required.

Muscular Dystrophy Research and Tracking (MD STARnet)

Funded by the CDC, the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) collects health information from everyone with muscular dystrophy who lives in specific areas in the United States. The goal is to promote a better understanding of the experiences, care, and quality of life of people living with muscular dystrophy, in order to improve their care.

Developmental Delay Assessment Guide

A step-by-step guide intended for caregivers to identify developmental delays and determine when to consult a healthcare professional.

Patient Support

Your patients and their caregivers may ask about adjustments or life hacks that can make it easier to do everyday tasks such as getting around, going to school, and making friends. Or they may have their own innovative solutions and suggestions to share. You can point your patients to this content for tips on living with DMD and invite them to e-mail Hello@Sarepta.com to share their own adaptations and innovation.

 

 

 

 

REFERENCE
1. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018;17(5):445-455.