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Muscular Dystrophy

Muscular Dystrophy Care at UVM Health

Muscular dystrophy is a group of genetic neuromuscular disorders that cause muscle weakness. This muscle weakness can worsen over time and affect your ability to perform daily activities.

University of Vermont Health offers comprehensive, compassionate care to adults and children across Vermont and upstate New York. Our two muscular dystrophy clinics, accredited by the Muscular Dystrophy Association, offer advanced therapies to help ease your symptoms and slow the progression of the disease.

A medical provider helps a patient who is seated.

Why Choose UVM Health?

An essential aspect of care is getting to know you and understanding your goals and priorities. Our team delivers extensive expertise with a personal touch to create individualized treatment plans that help you thrive while living with muscular dystrophy.

As one of the region's leading providers of muscular dystrophy care, we offer:

  • Clinics dedicated to muscular dystrophy: We offer adult and pediatric clinics exclusively dedicated to muscular dystrophy, staffed by experts in the condition. Our clinics' accreditation by the Muscular Dystrophy Association signifies that we provide the highest standards of care.
  • Advanced expertise: Our muscular dystrophy doctors are triple-board-certified, which means they have completed fellowship training in neurology, neuromuscular medicine and electrodiagnostic medicine. Many serve in leadership positions in national organizations dedicated to neuromuscular disorders.
  • Team approach to care: Your care team includes experts in everything you need to live well — board-certified doctors, a nurse coordinator, a rehabilitation specialist and a pediatric pulmonologist (lung doctor). Your team may also include physical, occupational and speech therapists.
  • Academic focus: Our physician-leaders are active researchers, many of whom are training the next generation of experts. You can be confident that you are receiving care from clinicians with access to the latest advancements in muscular dystrophy treatment.

Types of Muscular Dystrophy

There are more than 30 types of muscular dystrophy, all of which cause muscle weakness. Common forms include:

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is the most common type of muscular dystrophy. It usually appears in boys. DMD symptoms often start in early childhood and include:

  • Difficulty walking, running and getting up from a seated position
  • Frequent falls
  • Large calf muscles
  • Learning differences
  • Muscle pain
  • Small stature for age
  • Tiredness
  • Walking on tip-toe
Becker Muscular Dystrophy

Becker muscular dystrophy is similar to DMD, but the symptoms are milder, and usually starts in adolescence or later. Becker muscular dystrophy is more common in boys than girls.

Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is progressive weakness and loss of use in the muscles in the face, shoulder blades and upper arms. Symptoms of this disorder usually appear before age 20.

Limb-Girdle Muscular Dystrophy

Limb-girdle muscular dystrophy (LGMD) is a group of disorders impacting the muscles around the shoulders and hips. Early symptoms include difficulty walking and holding your arms up or outstretched.

Myotonic Muscular Dystrophy

Myotonic muscular dystrophy most often affects young adults. The main symptom is the inability to relax muscles after contracting them.

Ocular Pharyngeal Muscular Dystrophy

Ocular pharyngeal muscular dystrophy (OPMD) affects the eyelids and throat muscles. This condition has a higher prevalence in people of French Canadian descent and Bukhara Jews in Israel.

Diagnosing Muscular Dystrophy

Muscular dystrophy symptoms can be similar to those of other conditions. An accurate diagnosis comes when you seek care from neuromuscular disorder experts with extensive experience diagnosing all types of muscular dystrophy.

Your neurologist will start your evaluation with a thorough physical examination. They will ask about your medical history and your family's medical history.

Your doctor may recommend that you undergo certain tests. We offer the latest advanced diagnostic procedures, including:

Neurological Exam

A neurological exam assesses how well your brain communicates with your body. Your doctor checks your muscle function, reflexes, speech and senses.

Genetic Counseling and Testing

Most types of muscular dystrophy are inherited. Genetic testing through blood samples can detect if you and your family members have the gene mutations that cause muscular dystrophy.

Blood Test

Certain substances in your blood can help diagnose muscular dystrophy or rule out other conditions.

Electromyography (EMG) and Nerve Conduction Studies

An EMG evaluates how well your muscles and nerves work. Your provider inserts a tiny needle conducting an electric current into your muscle. As you contract your muscle, a machine records its electrical activity. At the UVM Health, we offer single-fiber EMG, a sensitive specialized test for myasthenia gravis.

A nerve conduction study (nerve conduction velocity) evaluates how electrical signals travel through your nerves. We place two electrode patches on your skin over a specific nerve in different places. One electrode sends a mild electrical impulse, and the other records how your nerve responds.

Muscle Biopsy

Your doctor may surgically remove a small piece of muscle to be analyzed in a lab.

Electrocardiogram (EKG)

Some types of muscular dystrophy affect the heart. This test measures your heart's electrical activity.

Imaging Tests

Advanced imaging allows us to take photos and videos of the inside of your body. We use the latest imaging technologies, including:

Pulmonary Function Testing

Our pulmonologists evaluate how well you breathe, checking the air capacity and flow of your lungs.

Muscular Dystrophy Treatment

While there's no muscular dystrophy cure yet, researchers worldwide — including members of our team at UVM Health — are actively exploring new therapies. People who come to us for muscular dystrophy care now have access to leading-edge treatments that help ease symptoms and offer you the best possible quality of life.

Treatments we offer include:

Gene Therapy

Gene therapy can be used to correct gene mutations. The technique is most often used to treat children with Duchenne muscular dystrophy and spinal muscular atrophy.

Medications

Certain medications can treat some muscular dystrophy symptoms or delay the disease's progression.

Rehabilitation Therapy

Rehabilitation with physical therapy, occupational therapy and speech therapy help improve strength, mobility and ability to perform daily activities.

Respiratory Care

Our respiratory therapists can provide ventilation devices or show you exercises to help make breathing easier.

Supportive Care

Our care team helps you identify equipment that can make it easier to perform your daily activities. Supportive devices include braces, canes, walkers and wheelchairs.

Surgery

Your doctor may recommend surgery to:

  • Relieve muscle tension or help correct a curved spine caused by scoliosis
  • Insert a pacemaker to regulate your heart rhythm

Patient Resources

  • Muscular Dystrophy Association: The #1 voluntary health organization in the U.S. for people living with muscular dystrophy, ALS and related neuromuscular diseases. For over 70 years, MDA has led the way in accelerating research, advancing care and advocating for the support of our families.

Awards & Certifications

American Board of Psychiatry & Neurology (ABPN)

UVM Health neuromuscular faculty physicians hold national leadership positions and board certifications in addition to board certification in neurology.

American Board of Electrodiagnostic Medicine (ABEM)

The ABEM has board certified all UVM Health neuromuscular faculty physicians.

Locations Near You

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Malone, NY 12953

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Middlebury, VT 05753

802-388-4701

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Colchester, VT 05446

802-658-1900

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