If you are a physician, researcher, or genetic counselor who has identified a patient who may be eligible for our research, we would greatly appreciate your collaboration in our research endeavor. In order to view the specific instructions for how to enroll a patient, please contact our research genetic counselor for a password in order to access the password protected area of this web site. If you have already obtained a password, go to the Download Forms section to proceed with downloading the files that you need.

The password protected section of this web site contains the following PDF files:

•Diagnostic Criteria for Inclusion in Our Research
•Neuromuscular Disease Flow Chart
•Informed Consent Forms for Participating Patients
•Detailed Instructions on Enrolling a Patient
•Instructions on Shipping Specimens

The neuromuscular diseases that we are currently researching include: Limb-girdle muscular dystrophies(LGMD) OMIM Link Duchenne muscular dystrophy (DMD) OMIM Link Becker muscular dystrophy (BMD) OMIM Link Facioscapulohumoral dystrophy(FSHD) OMIM Link Myotonic dystrophy OMIM Link Myotubular myopathy OMIM Link Centronuclear myopathy OMIM Link Miyoshi myopathy OMIM Link

1. Visit our Inclusion Criteria Section to see if the patient is suitable for our research studies. Alternatively, you may contact Jessica Blasko to inquire as to whether a patient is or is not appropriate for our research.
2. Obtain written informed consent. All participants must read, understand, and sign our IRB-approved informed consent forms in order to participate in our research. If there is muscle tissue available from the affected patient (see below), the patient or parent/guardian if patient is under age 18 must sign a consent form for DNA studies and a consent form for muscle tissue studies. Clinicians obtaining consent from their patients sign as our “collaborating physician/genetic counselor” on section VII of the consent forms. To access the consent forms on this web site, contact Jessica Blasko to obtain your password.
3. Locate Specimens. Please refer to our Disease Flow Chart to see which specimens are needed for each neuromuscular disease we are researching. In the ideal situation, the patient you wish to enroll will have a defined genetic mutation and an available muscle tissue specimen.
   Blood: In some cases, we will need blood samples from the affected patient and all available and consenting first-degree relatives.
   Muscle tissue: For most of our research, we require unfixed, frozen muscle. Often, we can use tissue remaining from a surgical biopsy or autopsy. Alternatively, if a surgical procedure is planned for the near future, this may provide an opportunity to obtain a muscle specimen without additional risk or discomfort to the patient.
   
   If you are a physician, researcher, or a genetic counselor and would like access to the instructions for submitting specimens, click here. To obtain your password, contact Jessica Blasko.
4. Gather copies of relevant medical records. Medical records will help us correlate our research findings with existing clinical data. If available, please send a pedigree including all affected family members and first and second degree relatives of each. Also, muscle pathology reports, EMG, serum muscle enzymes, and results of any other neuromuscular-related tests are important. Please also include notes from neurologists and/or geneticists describing the initial presentation. Please ask your patient to sign an authorization for release of medical information.