Myotonic Dystrophy


Myotonic dystrophy is a type of muscular dystrophy that most often affects adults. A genetic disorder, myotonic dystrophy may occur if you inherit certain gene mutations from a parent. Myotonic dystrophy is a progressive condition that attacks the muscles, making them increasingly weak and dysfunctional over time. Symptoms usually first appear when individuals are in their 20s or 30s, but they can begin at any age. This condition does not have a cure, so the goals of treatment are to relieve pain, manage associated medical conditions and preserve muscle function.


Myotonic dystrophy is categorized as type 1 or type 2, depending on the gene mutations that cause the disorder. Both types share certain symptoms, but each is more likely to affect certain muscle groups than the other.

Type 1 is more common and, in rare cases, can be present at birth or begin in childhood.

Type 2 tends to be less severe than type 1. Type 2 does not occur in infants and seldom appears in childhood.


  • Arrhythmia
  • Cataracts
  • Difficulty breathing during sleep
  • Hair loss or infertility (in men)
  • Muscle weakness and decay that worsens over time
  • Protracted muscle tensing
  • Slurred speech
  • Type 2 diabetes

Type 1 myotonic dystrophy is more likely to affect the muscles of the face, neck, hands and legs. Type 2 usually affects hip, neck, shoulder and elbow muscles.


Currently, there is no way to prevent myotonic dystrophy.

Risk Factors

Individuals with mutations in the DMPK or CNBP genes are at risk for myotonic dystrophy. These mutations can be passed from parents to children. Most individuals with myotonic dystrophy have a parent with the condition.


  • Medical and symptom history. A provider will ask about your symptoms, including when they began, what areas of the body they affect, when they occur, how long they last and how they affect your day-to-day functioning. The provider will also want to learn about your overall health history, including any chronic conditions you have and the medications you take.
  • Physical exam. The provider may feel certain muscles, such as those in your neck, to check for weakness or involuntary contraction.
  • Electromyography. Also known as an EMG, this test checks a muscle’s electrical activity. By inserting a thin needle outfitted with an electrode into a muscle, your provider can determine whether the tissue is weak or has experienced damage and whether myotonic dystrophy may be responsible.
  • Muscle biopsy. Your provider may remove a small piece of muscle with a needle or through an incision and send it to a laboratory, where it can be examined for signs of weakness.
  • Genetic test. A blood or saliva sample can show whether you possess gene mutations that cause myotonic dystrophy.


Your healthcare team will recommend treatments to relieve symptoms and maintain function and quality of life. These treatments may include:

  • Physical therapy to preserve and enhance muscle strength and range of motion
  • Regular exercise to help muscles stay strong
  • Adaptive equipment to help with mobility
  • Medication and heat application to reduce pain
  • Surgery to remove cataracts
  • Monitoring, medication, or the insertion of a pacemaker or defibrillator to treat an abnormal heart rhythm •
  • Testosterone replacement therapy to treat male infertility

Follow-up Care

You will regularly follow up with your primary care provider and certain specialists, such as a cardiologist, to ensure treatments are still effective or to make any necessary adjustments. Be sure to notify your providers of any new symptoms or challenges that arise between appointments.

Why Choose UK HealthCare for Neuromuscular Disorders?

If you or a loved one is living with a neuromuscular disorder, neuromuscular doctors with Kentucky Neuroscience Institute can offer the latest and most sophisticated care options. UK HealthCare’s ALS Multidisciplinary Clinic earned accreditation as a Certified Treatment Center of Excellence from the ALS Association. This honor is awarded to facilities that demonstrate competency meeting the clinical care and treatment standards set forth by the ALS Association. These facilities must also take part in ALS research and a comprehensive site review.

Additionally, the Kentucky Neuroscience Institute is ranked 44th in the country by U.S. News & World Report, and our physicians are regularly named to the Best Doctors in America List.