Facioscapulohumeral Muscular Dystrophy by gdf57j


                                                       Laboratory of Louis Kunkel, Ph.D.
Children’s Hospital Boston
The first place for children

                                                  Muscular Dystrophy:
                                                    Information for Patients and Families
HARVARD                                           Introduction
                                                  Researchers at Children’s Hospital Boston and Massachusetts General Hospital are
                                                  collaborating on the Harvard Neuromuscular Disease Research Project in an effort to better
                                                  understand and treat several different neuromuscular disorders.
                                                  Many of the neuromuscular disorders (dystrophies and myopathies) are rare and are
                                                  generally not well understood. In our neuromuscular research laboratories, much of our
                                                  research depends on volunteer patients and families to enroll in our studies. If you and/or
                                                  your child are affected with facioscapulohumeral muscular dystrophy (FSHD), you can
                                                  make an important difference by helping us to learn more about neuromuscular disease. We
                                                  are particularly interested in participants who have already had a muscle biopsy and genetic
                                                  mutation analysis. In our research, with your permission, we would request a small piece of
                                                  your/your child’s muscle biopsy from the pathology department and use this piece for our
                                                  research to study the different genes and proteins involved in neuromuscular disease.

                                                  Human skeletal muscles are made up of special cells (myofibers) that are surrounded by a
                                                  membrane and are arranged in bundles. Several proteins surround each muscle fiber along
                                                  the membrane and are essential for our muscle cells to function normally. These proteins
                                                  work together, & when one of them is absent or malfunctioning, the result often is a
                                                  Muscular Dystrophy
                                                  Muscular dystrophies are genetic disorders that involve progressive muscle wasting
                                                  weakness. FSHD is the 3rd most common form of muscle disease after Duchenne muscular
                                                  dystrophy and myotonic dystrophy. The symptoms of FSHD include weakness in facial
                                                  muscles, shoulders, upper arms, hips, and lower legs. The progression of this disease is
                                                  generally slow, with muscular weakness increasing over years. Each person, even people
                                                  within the same family, may differ slightly in the severity of FSHD.
                                                  FSHD is an autosomal dominant form of muscular dystrophy, meaning that an affected parent
                                                  has a 50% chance of passing on the gene that causes FSHD to each of his or her children. It is
GENETIC RESEARCH ON THE MUSCULAR                  caused by a genetic alteration on chromosome 4 and we estimate that one person in every
           DYSTROPHIES                            20,000 is affected. The genetic change that often causes FSHD is a deletion, or loss of genetic
  Elicia Estrella, MS, CGC Genetic Counselor      material on chromosome 4. Usually, the severity and age of onset of symptoms seems to
        Louis Kunkel, PhD, Lab Director           correlate with the amount of genetic material that is missing in the DNA.
              Program in Genomics
            Children’s Hospital Boston            A small number of people genetically tested for FSHD do not have a deletion, but have a
             300 Longwood Avenue                  different form of a mutation, such as a repeat mutation. We know that there is a genetic
            Enders Building, 5th Floor            marker for FSHD on 4q35 and that this tandem repeat tends to be smaller in individuals
                Boston, MA 02115                  affected with FHSD. The smaller the repeat, the more severe the disease tends to be and the
    Phone: 617-919-4552 • Fax: 617-730-0253       earlier the onset.
   Email: elicia.estrella@childrens.harvard.edu
                     Web Site:
             www.chb-genomics.org                 FSHD occurs when the gene on chromosome 4q35 is mutated and fails to make an
                                                  important protein correctly. This causes a problem with the protein in the muscle cells that
                                                  keeps the muscle cells from working properly.

                                                        Participation consists of:
                                                        Informed Consent
                                                        Each family member who decides to participate will need to sign a
Goals                                                   consent form. If the participant is a minor, a parent/guardian will
Extensive research on neuromuscular disorders has       be the one who provides consent.
taught scientists that there are many important
proteins in muscle cells that interact closely with     Medical information and family history
one another. A problem with one of the proteins         We will ask your permission to obtain relevant medical records,
may affect the functioning of the other proteins,       such as a muscle biopsy report, from your physician. We may
and the muscle cell as a whole. Based on our            also ask you some questions about your family medical history.
knowledge that many genes and proteins that             This can be done through a brief telephone interview.
interact together are involved in different forms of
muscular dystrophy, we aim to study several of          DNA sample
these genes and proteins in a collaborative             We ask for a DNA sample (via blood draw or saliva collection)
research project. The goal of our research is to        from all available and consenting family members. We isolate the
better understand which genes are “turned on” and       genetic material (DNA), which will be screened for mutations
which genes are “turned off” in normal and
                                                        (changes) in genes that may be involved in the disease in your
diseased muscle during the course of a lifetime
(fetal life to adulthood). Genes that are turned on     family.
produce proteins in our body, whereas genes that
are turned off do not produce proteins. Research        Muscle tissue from an existing muscle biopsy
has shown that muscle samples of individuals with       Studying muscle from a person who has muscular dystrophy can
neuromuscular disease have abnormal patterns of         tell us a lot about the genes and proteins involved in the disease.
gene expression. In other words, the expression of      We can help find out if any frozen tissue is still available from an
their genes is different from that of individuals       existing muscle biopsy and, with your permission, arrange to have
who are not affected with a neuromuscular disease.      it shipped to our laboratory. Alternatively, if you or your child is
Also, different proteins are present in patients with   scheduled to undergo a surgical procedure in the near future, this
neuromuscular diseases than in unaffected               may provide an opportunity to donate a muscle specimen. With
individuals. Thus, we want to understand normal
                                                        some procedures, it is possible for the surgeon to remove a small
patterns of gene expression, so that we can better
understand how abnormal gene expression patterns        piece of muscle without any additional risk or discomfort to the
cause the disease. By learning more about the           patient.
genes involved in neuromuscular disease, we aim
to understand the genetic alterations that cause        Cost and time commitment:
specific neuromuscular disease. This will hopefully     Participation in this study is free of charge. Travel to Boston is not
allow us to better diagnose and treat these             required and individuals from anywhere in the world may
disorders.                                              participate. The telephone interview, blood draw, and paperwork
For our research to be successful, we need to study     should take no more than 2 hours to complete.
the DNA and muscle of many individuals so that          Study Duration
we can learn as much as possible about the causes       The research we are conducting consists of studies of indefinite
of these diseases. Participation will not require any
                                                        duration. Therefore, it is impossible for us to predict when, if
more medical procedures, except perhaps a blood
draw or saliva collection if mutation analysis was      ever, we may have results. Often, research studies take years to
not performed on you/your child in the past.            complete. Participants and/or their physicians are welcome to
                                                        contact us at anytime for an update on our research.
Contact us
If you would like to enroll or if you have questions
about this study, please contact us:

Elicia Estrella, MS, CGC,
Genetic Counselor/Study Coordinator
Telephone: 617-919-4552,
Fax: 617-730-0253

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