Muscle Disease Quality-of-Life Study Seeks Participants

Researchers are surveying people with a congenital form of muscular dystrophy or myopathy about their perceptions of their quality of life and autonomy

Young adults with a congenital muscle disease are invited to fill out an online survey probing their perceptions of their quality of life.
Article Highlights:
  • Researchers at the University of Michigan have launched a survey to identify perceptions about quality of life and independence in young adults with a congenital (at or near birth) form of muscular dystrophy or myopathy.
  • Study data are expected to provide insight and understanding about how individuals with a congenital MD or myopathy view their lives, enabling medical professionals, including counselors and therapists, to address those areas.
by Amy Madsen on January 26, 2011 - 2:39pm

Researchers at the University of Michigan are seeking 30 young adults, ages 18-29, who have had symptoms of certain forms of muscular dystrophy or myopathy since birth, to complete an online survey that asks about their perceived quality of life and level of independence.

The study also is recruiting 30 adults with no neuromuscular disease.

Results will be used to identify ways that counselors and therapists can address specific factors considered important by people with congenital muscle diseases (present at or near birth).

About the new study

The University of Michigan investigators include genetic counseling student Darcy Huismann, neurologist James Dowling, and developmental psychologist Jane Sheldon. MDA is not supporting this study. However, Dowling was recently awarded an MDA grant for research in myotubular myopathy.

The investigators are seeking people who have a genetic muscle disease for which symptoms began at or near the time of birth and progressed in severity during adolescence or young adulthood. The diseases in MDA's program that fall into this category include all forms of congenital muscular dystrophy, some forms of limb-girdle muscular dystrophy, central core disease, myotubular/centronuclear myopathies, nemaline myopathy, and some forms of Emery-Dreifuss muscular dystrophy.

People with other congenital-onset muscle diseases, or those who are not sure what category they fit into, may indicate their diagnosis when they answer the survey questions.

The study was posted online Jan. 18, 2011, and will remain available until approximately mid-March, 2011. However, Huismann asks that prospective participants contact her by phone or e-mail (see contact information, below) for guidance prior to taking the online survey.

The survey will take 45 minutes to an hour to complete. Those unable to complete the survey in one sitting may save their answers and return as many times as needed to finish. Additionally, participants may submit answers by telephone, if preferred. Privacy will be protected. There are no costs to participants, and there is no reimbursement for taking part.

The survey includes questions about:

  • overall quality of life;
  • quality of life related specifically to each participant's neuromuscular condition;
  • how the individual views this time period in his or her life in terms of independence; and
  • demographic information, such as specifics about age, diagnosis and living situation.

For information on participation in this study, contact Darcy Huismann at the University of Michigan at (734) 764-8079; or send e-mail to

Meaning for people with congenital muscle diseases

Investigators hope the results can benefit the congenital MD/myopathy community by contributing to the development of specific therapies or counseling methods that address the main concerns that the survey identifies.

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