Myotonic Dystrophy
What is Myotonic Dystrophy?
Myotonic Dystrophy (DM) is a rare genetic condition that affects muscles and organs in the body. It is one of the most common forms of adult-onset muscular dystrophy which causes muscles to deteriorate over time. There is unfortunately no cure, but there are treatments that can help manage symptoms.
What Causes Myotonic Dystrophy?
Type 1 DM (DM1) is caused by an irregular gene on chromosome 19. It is also called Steinert disease.
Type 2 DM (DM2) is caused by an irregular gene on chromosome 3 and is a milder form. It is also called proximal myotonic myopathy.
What Are the Symptoms of Myotonic Dystrophy?
The most common type of DM1 begins in adolescence with muscle weakness in the face, neck, fingers, and ankles.
Additional symptoms may include:
- Muscle weakness of voluntary muscles
- Inability to relax muscles
- Abnormal heart rhythm
- Difficulty breathing
- Difficulty swallowing
- Development of cataracts
- Intellectual impairment and developmental delays (childhood-onset and congenital-onset forms)
The earlier the symptoms develop, the more significant they are. Symptoms usually progress gradually when DM begins during adolescence or adulthood but may progress quickly with congenital-onset and childhood-onset forms of the disease.
UR Medicine's Treatments for Myotonic Dystrophy
Treatment for Myotonic Dystrophy will focus on managing your symptoms. We will work closely with you and other providers to develop an individualized treatment plan. Depending on your symptoms, treatment may include:
- Medications
- Physical and occupational therapy
- Speech-language pathology
- CPAP machine for sleep apnea
- Cataract surgery
What Sets Us Apart?
Over three decades ago, UR Medicine researchers were the first to describe myotonic dystrophy type 2. Since then, significant scientific progress has been achieved in Rochester and beyond. These advancements have brought researchers closer than ever to developing treatments for this debilitating disease.
Several clinical trials testing new therapies for myotonic dystrophy are now underway at UR Medicine. The URMC myotonic dystrophy clinical research program includes trials, the National Registry, and clinical projects of the Wellstone Center.
Our team of experts specialize in what’s needed to care for all forms of adult and childhood muscular dystrophy. We coordinate care tailored to the needs of patients and families, in partnership with the Muscular Dystrophy Association. Our team also evaluates and treats patients with neuromuscular diseases not covered by the MDA.
UR Medicine is home to one of six NIH-funded Wellstone Muscular Dystrophy Cooperative Research Centers, and our clinicians are active in research, serving as principal investigators for national and international multi-center trials. Their work includes investigating the best treatment of patients with myotonic dystrophy as well as education and advocacy involving all neuromuscular diseases.
Patient Education & Support
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