FS DMD by jizhen1947


									                                                                                                                       Fact sheet 3

                           Duchenne Muscular Dystrophy &
                             Becker Muscular Dystrophy
                         What are Muscular Dystrophies?
                                                                                    Most affected adolescents develop a sideways
                         The muscular dystrophies are a group of genetic            curvature of the spine called sco liosis, which
                         disorders that are characterised by progressive            may impair breathing and adds to discomfort.
                         muscle weakness. There are differences in the              Few surv ive beyond the third decade, with
                         various types of muscular dystrophy in the rate            respiratory complications and heart disease
                         at which the muscle weakness progresses and                being common causes of death.
Division of Human        the muscle groups wh ich are most severely
Genetics                 affected. The age of onset at wh ich symptoms
University of Cape                                                                  Intellectual ability is usually normal in people
                         first appear in the different types varies from
Town                                                                                with DMD, although intellectual disability is
                         childhood through adult life.
                                                                                    found to occur in these indiv iduals more often
                         This fact sheet focuses on two particular types
                         of muscular dystrophy: Duchenne muscular                   than in the general population. Unlike the
                         dystrophy (DMD) and Becker muscular                        physical disability, the mental handicap, if
                                                                                    present, is not progressive.
                         dystrophy (BMD).

                         Both DMD and BMD affect males                              A very small number (5-10%) of female carriers
                         predominantly, affected females are very rare.             of the “faulty” gene have a mild degree of
                                                                                    muscle weakness themselves and are then
                         Figure 1 shows the muscles that are affected
                         during the early stage of Duchenne and Becker              known as „manifesting carriers‟. However, it is
                                                                                    extremely rare for a female to show symptoms.
                         muscular dystrophy .

                                                                                    What are the features of Becker muscular
                                                                                    dystrophy (BMD)?
                                                Figure 1: In the early              BMD is characterised by the same pattern of
                                                stages, Duchenne and                muscle weakness but is less severe and
                                                Becker muscular                     disabling than DMD. BM D usually has a later
                                                dystrophy affect the                onset than DMD and is sometimes only
                                                pectoral muscles - which            diagnosed during adolescence or adulthood.
                                                draw back the shoulders,            The effects of BMD on the joints, spine, heart
                                                the trunk and the upper and
                                                lower legs. These                   and lungs are generally milder. BMD is,
                                                weaknesses lead to                  however, very variable in severity, even
                                                difficulty in rising,               between affected family members.        Some
                                                climbing stairs and                 people with BMD are able to walk only until
                                                maintaining balance.                early adulthood, others to an advanced age.
                                                (Picture from the Muscular          Survival in some affected people is to middle
                                                Dystrophy Association
                                                website:                            age, but others have survived more than 80
                                                http://www.mdausa.org/)             years. Some develop heart problems in early
                                                                                    adulthood; others never do.

                         What are the features of Duchenne muscular                 GENETICS:
                         dystrophy (DMD)?
                                                                                    As this is a genetic condition, genetic
                         Duchenne muscular dystrophy usually presents               counselling is strongly recommended. Genetic
                         in early childhood with delayed milestones,                counselling provides information on the
                         including delays in standing independently. The            condition, its inheritance pattern, risks to other
                         first thing parents usually notice is that the calf        family members and the prognosis (probable
                         muscles are enlarged. By approximately 8 to 11             outcome).         Psycho-social support and
                         years of age affected boys are unable to walk              information about testing, includin g diagnostic
                         and most are wheelchair bound by age 12 years              testing, carrier testin g, presymptomatic and
                         of age. Heart disease occurs in all patients after         prenatal testing (when appropriate and
                         age 18. Shortening of some muscles leads to a              available) is offered.
                         typical pattern of restriction of joint movement
                         called contractures.

                     The resources in this brochure should not be used as a substitute for professional medical care or advice. Users
                     seeking information about a personal genetic condition should consult a qualified healthcare professional.
                                                                                                                       Fact sheet 3

                           Duchenne Muscular Dystrophy &
                             Becker Muscular Dystrophy
                       How common is DMD and BMD?                                   When is Genetic Testing appropriate?
                       DMD is one of the most frequent forms of                     Genetic testing can be done to confirm a
                       muscular dystrophy, affecting approximately                  diagnosis (a diagnostic test), determine
                       22 per 100 000 male births, while BMD affects                whether a person is a carrier for DM D or
                       3 per 100 000 male births. Of DMD patients,                  BMD (carrier testing) or to p redict if a person
Division of Human      60% have inherited the “faulty” gene                         or an unborn child will develop DM D or
Genetics               (mutation) from one of their parents (familial               BMD (a predictive or a prenatal test).
University of Cape     mutations). In 30% of DM D patients the
Town                   genetic change occurs for the first time in the              Genetic serv ices should be rendered with
                       formation of the egg or the sperm; this is called            comprehensive genetic counsellin g.      The
                       a spontaneous mutation. In these cases the                   Div ision of Human Genetics at the University
                       affected person would be the first in the family             of Cape Town can be contacted in this regard.
                       to have the mutation. Spontaneous mutations
                       occur less frequently in BMD patients
                       (approximately 10%).                                         How soon will I have the results?
                                                                                    Results will be available within approximately
                       What genes are related to DMD and BMD?                       4 weeks of the test. The results will be
                                                                                    communicated to you personally via your
                       DMD is caused by mutations in the dystrophin                 general practitioner, neurologist o r by the
                       gene. The dystrophin gene is located on the X                staff of the Div ision of Human Genetics at the
                       chromosome and when a fault (mutation)                       University of Cape Town.
                       occurs it leads to the formation of a faulty
                       protein in muscle f ibres.         The dystrophin
                       protein is absent or non-functional in DMD.                  Is there treatment available for DMD and
                       Whereas in BMD the type of fault (mutation)                  BMD?
                       makes the dystrophin molecule abnormal. It is                Currently there is no known treatment that
                       still able to function, but to a lesser degree than          alters the actual loss of muscle cells. Much
                       normal. Having some dystrophin protects the                  can be done to help limit the effects of the
                       muscles of those with BMD from degenerating                  muscular dystrophy. Steroids may help to
                       as badly or as quickly as those of people with               delay disease progression, but should only be
                       DMD. The function of dystrophin in the                       used under strict medical supervision.
                       muscle fibre is complex, but we know that                    Prevention of scoliosis is one of the main
                       when it is absent or abnormal the muscles                    challenges in the treatment of affected
                       slowly become weaker.                                        individuals. Back support and surgery is used
                                                                                    to combat this.        The discovery of the
                       How do people inherit DMD or BMD?                            dystrophin gene and knowledge of the
                                                                                    function of the protein has raised hope that
                       The dystrophin gene is carried on the X                      rational therapeutic strategies will be
                       chromosome and inherited in an X-linked                      developed.
                       recessive manner. (Refer to Fact sheet 11.)

                     The resources in this brochure should not be used as a substitute for professional medical care or advice. Users
                     seeking information about a personal genetic condition should consult a qualified healthcare professional.
                                                                                                                       Fact sheet 3

                           Duchenne Muscular Dystrophy &
                             Becker Muscular Dystrophy
                             Where can I read more about DMD and
                             You may find the following recourses about
                             Muscular Dystrophies helpful.
                             1. Genetics Reviews:
Division of Human
University of Cape           2. Muscular Dystrophy Association website:
Town                         http://www.mdausa .org/

                             3. Muscular Dystrophy Foundation (MDF) of
                             South Africa:

                             Are there DMD and BMD support groups?
                             The DMD and BMD support groups in South
                             Africa falls under the Muscular Dystrophy
                             Foundation of South Africa. Please contact
                             your local MDF office for information.

                      •      National Office:
                             P.O. Box 1535,
                             Pinegowrie, 2123
                             Tel: (011) 789-7634, Fax: (011) 789-7634
                             Email: national@mdsa.org.za

                      •      Cape Branch:
                             P.O. Box 752,
                             Goodwood, 7459
                             Tel: (021)592-7306, Fax: (021)592-7306
                             Email: cape@mdsa.org.za

                             Who do I contact for more information
                             regarding testing?

                             Division of Human Genetics               Molecular
                             Prof. Jacquie Greenberg
                             (021) 406-6299
                             Dr Rene Goliath
                             (021) 406-6433

                             Genetic Nurses:
                             Sister Sklar and Sister Legg
                             (021) 406-6304

                     The resources in this brochure should not be used as a substitute for professional medical care or advice. Users
                     seeking information about a personal genetic condition should consult a qualified healthcare professional.

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