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Duchenne muscular dystrophy (DMD) is a rare genetic disorder caused by a mutation in the DMD gene, which is responsible for producing a protein called dystrophin. This protein helps to protect muscle tissue throughout the body from damage and plays an essential role in muscle repair. DMD primarily affects boys, with initial symptoms typically occurring between the ages of 2 and 3. The condition is progressive, which means symptoms worsen over time.
What healthcare providers treat DMD?
While there is no cure for DMD, there are treatments that can help manage the symptoms, improve the quality of life for those who have the condition, and in some cases, lessen the severity of the disease.
The management of DMD typically requires a coordinated effort among medical professionals with different specialties. The type of care a person with DMD needs and the providers they work with can change over time. Key members of a healthcare team include:
- Pediatric neurologists: These are medical doctors who specialize in the diagnosis and treatment of neurological disorders in children, including DMD. They can monitor disease progression, prescribe medications, and offer advice on managing symptoms.
- Physical therapists: Physical therapists work with DMD patients to help maintain muscle strength and function. They can provide customized exercise programs and assistive devices to help patients maintain mobility.
- Occupational therapists: Occupational therapists help DMD patients improve their ability to perform daily activities and help with adaptations to the home environment.
- Speech-language pathologists: DMD can also affect speech and swallowing. Speech-language pathologists can help patients develop communication strategies and manage swallowing difficulties.
- Genetic counselors: Genetic counselors can help families affected by DMD understand the genetic basis of the condition and provide support and counseling.
- Social workers and case managers: Social workers and case managers can help coordinate care and connect families with resources, such as financial assistance and support groups. They can also provide emotional support and counseling.
- Cardiologists: As DMD progresses, it affects the heart muscle. Cardiologists specialize in diagnosing and treating heart conditions and can provide monitoring and treatment.
- Pulmonologists: DMD can also affect how a person breathes. Pulmonologists specialize in diagnosing and treating lung conditions and can offer advice on managing respiratory symptoms.
- Orthopedists. Also called “orthopedic surgeons.” While DMD does not directly affect the bones, it can cause problems with bones and joints, including scoliosis (curvature of the spine).
- Mental health professionals. DMD can cause difficulties with learning and social development. It can also cause emotional and psychological distress for both people with DMD and their family members. Providers such as psychiatrists and psychologists can help manage these aspects of care.
- Nurses. As with any health condition, nurses play an essential role in treatment and care for people with DMD and their families.
Pediatricians and primary care providers also play an important role. A pediatrician is often the first to evaluate the early symptoms of DMD. During the ongoing process of managing DMD, a person may visit their primary care provider for preventive care, treatment for minor illnesses or injuries, vaccinations, and other basic healthcare needs.
Parents and caregivers
Because DMD affects a person starting at a very young age, parents and caregivers are indispensable members of the healthcare team. Their role includes:
- Communicating with healthcare providers, including asking questions, sharing concerns, and providing feedback on a child’s progress
- Making decisions about the child’s care and advocating for the child’s needs
- Managing and scheduling medical appointments and medications
- Assisting with mobility and providing day-to-day support at home
- Helping the child maintain independence and quality of life
- Navigating the healthcare system, including insurance, co-pays, and medical bills
Caring for a child with DMD can be challenging, and at times it can be overwhelming. Receiving a diagnosis of DMD often causes significant emotional distress for a family. In addition to being a caregiver, a person must also juggle work, managing a household, and the other important people in their life. At times, parents and caregivers may need to make difficult decisions, such as choosing between different treatment options.
Mental health should be a focus for parents, caregivers, and other family members, who often benefit from resources like support groups and counseling.
