Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry

Brief Title

Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry

Official Title

National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members

Brief Summary

      Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited
      disorders characterized by progressive muscle weakness and loss of muscle tissue. The purpose
      of this registry is to connect people with DM or FSHD with researchers studying these
      diseases. The registry will offer individuals with DM and FSHD an opportunity to participate
      in research that focuses of their diseases. The registry will also help scientists to
      accomplish research on DM and FSHD and to distribute their findings to patients and care

Detailed Description

      The National Registry of DM and FSHD Patients and Family Members was developed to create a
      link between patients and scientists in order to promote research on these rare illnesses.
      The Registry is sponsored by the National Institutes of Health.

      Patients that are interested in joining the Registry can email or call to request an
      application or download the forms from the website ( The
      Application packet contains:

        -  A Patient Information Form, which asks about your muscle strength, general health, and
           how your disease affects your daily life

        -  A Medical Records Release Form, which allows us to contact your doctor and obtain
           records about your diagnosis

        -  An informed Consent Form, which describes the study's purpose and what you can expect
           while you are involved with the project.

      After you are enrolled in the Registry, there are several ways to participate in research.
      The activities include:

        -  Complete an annual update form to help us keep track of how your symptoms change over

        -  Receive updates about the progress of the Registry, research highlights, and other news
           related to muscular dystrophy through newsletters, an email listserv, and Facebook.

        -  Receive letters from the Registry when researchers are looking for patients to take part
           in studies. These projects may include filling out questionnaires, exploring new
           treatments, and other types of research.

      There is no obligation to participate in these activities. Taking part in any study or
      filling out the annual updates are completely up to you.

Study Type


Primary Outcome

Patient reported outcomes


Myotonic Dystrophy


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

September 2000

Completion Date

June 2023

Primary Completion Date

June 2023

Eligibility Criteria

        Inclusion Criteria:

          -  Diagnosed with DM, FSHD, or related diseases or are an unaffected family member of
             someone diagnosed with one of these diseases

        Exclusion Criteria:

          -  No family history of DM, FSHD, or related diseases




N/A - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers


Richard T. Moxley, III, MD, 888-925-4302, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Secondary IDs


Responsible Party

Principal Investigator

Study Sponsor

University of Rochester


 National Institute of Neurological Disorders and Stroke (NINDS)

Study Sponsor

Richard T. Moxley, III, MD, Principal Investigator, University of Rochester Medical Center, Department of Neurology

Verification Date

November 2020