According to a story from blog.cincinnatichildrens.org, a diagnosis of Duchenne muscular dystrophy is always an alarming piece of news; learning that your child has a progressive muscle atrophy disorder that will shorten their lifespan is undoubtedly a source of worry and stress. However, it is important for patients and their families to be informed on the latest areas of treatment and research. The heart has been an area of particular focus as it also weakens over time in patients.
About Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is a neuromuscular disease, and it is one of the more severe types of muscular dystrophy. It is characterized by progressive muscle weakness that usually begins around age four and worsens quickly. As an X-linked genetic disease, boys are mostly affected, with girls only occasionally displaying mild symptoms. The disease is caused by mutations of the dystrophin gene. Symptoms of Duchenne muscular dystrophy include falling, abnormal walking posture, eventual loss of walking ability, muscle fiber deformities, intellectual disability (not in all cases), enlargement of the tongue and calf muscles, skeletal deformities, muscle atrophy, heart abnormalities, and difficulty with breathing. Treatment includes a variety of medications and therapies that can help alleviate symptoms and slow disease progression. Lifespan is usually into the thirties with good care. Better treatments for this disease are urgently needed. To learn more about Duchenne muscular dystrophy, click here.
Here are five facts that Duchenne patients and families should know about the heart and how it is affected by the disease.
- Cardiac screening is a good idea for patients starting in their second decade of life as this is when heart problems often first appear. However, some patients may have issues earlier, so occasional screening in early childhood is also recommended.
- Know the warning signs of heart issues in Duchenne muscular dystrophy patients. A number of symptoms can suggest that the heart is weakening. These include symptoms similar to asthma that don’t appear to resolve on their own, shortness of breath, and chronic coughing. Loss of appetite or vomiting can be other indicators of heart issues.
- Heart screening is a good idea starting at around age five; an echocardiography screening should be conducted on an annual basis. Aroung age 8-10, cardiac MRIs are recommended as these can detect signs of heart problems before symptoms begin to affect the patient.
- There are a number of therapies that can help treat heart problems for Duchenne muscular dystrophy patients. These include ACE inhibitors, aldosterone receptor agonists, and steroids, which have the potential to slow the progression of heart dysfunction. In patients with more severe challenges, an implantable cardioverter-defibrillator (ICD) or ventricular assist device can help improve cardiac function.
- Genetic testing of female family members is recommended. As a disease that functions on the X chromosome, boys are almost exclusively affected by the disorder, but female relatives that carry the mutation may have some manifestations including heart disease.