Study of Pregnancy in Women with Myotonias

50 women are needed to fill out a questionnaire about the effects of myotonia congenita and paramyotonia congenita on pregnancy and delivery — and vice versa

Article Highlights:
  • Investigators at the University of Rochester (N.Y.) are conducting a questionnaire-based study to determine the effects of having a nondystrophic myotonia (myotonia congenita or paramyotonia congenita) on pregnancy and delivery, and the effects of pregnancy and delivery on the course of nondystrophic myotonias.
  • It is not necessary to ever have been pregnant to participate, as investigators are interested in the effect of these diseases on pregnancy decisions. Participants must be at least 18 years old.
  • No travel is required.
by Margaret Wahl on July 19, 2013 - 5:00am

Upate (Dec. 18, 2013): This study of pregnancy and delivery in women with myotonias is no longer recruiting new participants. The investigators will continue to collect data forms from people with whom they are already in contact.

Investigators at the University of Rochester (N.Y.) are seeking participants for a questionnaire-based study of pregnancy and delivery in women with nondystrophic myotonias. No travel is required.

Nondystrophic myotonias included in this study are:

  • myotonia congenita (chloride channel abnormalities, including Thomsen myotonia congenita, Becker myotonia congenita, myotonia levior and fluctuating myotonia congenita); and
  • paramyotonia congenita (sodium channel abnormalities, including potassium-aggravated myotonia, myotonia fluctuans, myotonia permanens and acetazolamide-responsive myotonia).

Emma Ciafaloni, an associate professor of neurology at the University of Rochester Medical Center, where she co-directs the MDA clinic, is the principal investigator.

She's collaborating with Eva Pressman, professor and director of Maternal-Fetal Medicine at the University of Rochester, and Yuliya Snyder, who is doing postgraduate work in neuromuscular disease at that institution.

The investigators hope to:

  • increase knowledge about the course and outcome of pregnancy and delivery in women with nondystrophic myotonias;
  • assess the effects of pregnancy, delivery and the postpartum period on disease symptoms, disease progression and quality of life in women with nondystrophic myotonias; and
  • improve counseling, family planning and obstetric management for these women.

The study will include women who have been pregnant as well as those who have not been pregnant. Investigators say they're interested not only in pregnancy and delivery outcomes but also in reasons why a woman with a nondystrophic myotonia may choose not to become pregnant.

There is no cost to participate in this study, and postage-paid envelopes will be provided to make it easier to return the forms.

Prospective participants must:

  • be at least 18 years old;
  • have a nondystrophic myotonia; and
  • be willing to complete a questionnaire that asks about her neuromuscular disorder, genetic counseling, pregnancy, infertility and other medical areas.

To participate

For more information or to participate in this study, contact Colleen Donlin-Smith, study coordinator, at (585) 275-7680 or at Colleen.Donlin-Smith@rochester.edu. Alternately, you can page Yuliya Snyder, study co-investigator, by calling (585) 220-4639 and entering a call-back number.

To learn more about pregnancy and neuromuscular disease, read these Quest articles:
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