Stanford Center for Inherited Cardiovascular Disease

Muscular Dystrophy and Neuromuscular Disease In Depth

Stanford’s Cardiology Team for Patients with Muscular Dystrophy

Skeletal muscle disorders including Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Emery-Dreifuss Muscular Dystrophy, Limb Girdle Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy, Oculopharyngeal Muscular Dystrophy, Congenital Muscular Dystrophy, Spinal Muscular Atrophy, Myotonic Dystrophy, Myotonia Congenita, and Friedrich’s Ataxia are often associated with underlying cardiomyopathy (disease of the heart muscle). In patients with muscular dystrophies, it is critical for patients to be evaluated for and treated for heart muscle disease.  Depending on the type of underlying disease, the form, severity and time-course of heart muscle disease can be variable.  Treatment of heart muscle disease can prevent worsening symptoms, prevent arrhythmias including sudden death, and improve quality of life in patients with muscular dystrophy.

At Stanford’s Center for Inherited Cardiovascular Disease, we work closely with our colleagues in Pediatric and Adult Neurology (MDA Clinic), Genetics, Pulmonary, and Physical Medicine in order to optimize care for our Muscular Dystrophy and Neuromuscular Disease patients.  As each patient has unique needs and cardiac problems, we will tailor a treatment and monitoring plan to best suit these needs.

Genetics of muscular dystrophy associated cardiomyopathy

Several genes are associated with neuromuscular diseases.  We believe that understanding how these genes work helps our patients, and our patients’ families better understand their disease.   The implications for patients’ family members are highly dependent upon the underlying genetics of disease. Our pediatric and adult cardiologists work closely together to ensure that patients transitioning from pediatric to adult clinics have a smooth transition.

Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy is the most common limb girdle muscular dystrophy.  The gene that is mutated in Duchenne muscular dystrophy, DMD, encodes dystrophin. DMD is encoded in the DNA of the X chromosome.  The X chromosome is one of two sex chromosomes, X and Y.  Males, who have one X chromosome, are much more likely to develop Duchenne Muscular Dystrophy; while females are usually carriers of the DMD mutation in families with Duchenne Muscular Dystrophy, and may have no clinical phenotype.  Boys with Duchenne muscular dystrophy typically have onset of disease in childhood and progressive symptoms of skeletal muscle weakness through the teenage years and early adulthood. Patients become wheelchair bound and develop respiratory muscle weakness. As dystrophin is also important for heart muscle function, the heart can become weakened and develop arrhythmias due to the dystrophin mutation.  Treatment with medications used for dilated cardiomyopathy and heart failure can prevent worsening of heart muscle dysfunction and reduce heart-related symptoms.

Other cardio-skeletal myopathies and dystrophies

Numerous genetic diseases affect the skeletal muscle and the muscle of the heart.  The Stanford Center for Inherited Cardiovascular Disease’s physicians works to define the genetic underpinnings of skeletal and heart muscle disease in order to better understand diagnosis and prognosis and proper treatment of each patient.  In addition, only by truly understanding the genetic basis of disease, are the Center’s physicians able to appropriately counsel patients and their families about the risk of other family members developing disease.

Treatment options

For years, treatment of inherited neuromuscular diseases and associated cardiomyopathies has focused on supportive care, to improve quality of life and prevent adverse consequences of disease.  Recognition and treatment of neuromuscular disease associated cardiac disease has improved patients’ quality of life and longevity. In recent years, a few neuromuscular diseases, such as Pompe’s disease and Fabry disease, have been treated with disease-specific medications, such as agalsidase beta and alglucosidase alfa, which can directly relieve the effects of disease mutations.  The physicians at Stanford’s Center for Inherited Cardiovascular Disease work together with their patients to determine the best course of treatment available.

Part of our family

We recognize that families with neuromuscular disease and muscular dystrophy face unique challenges.  Our team seeks to bring physicians, families and patients together, so that each patient and family member knows that they are not alone. We arrange a field trip with our neuromuscular disease patients each year.  This year’s trip was hosted by Willow Garage, a personal robotics company located in Menlo Park, CA.

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