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  • M Y O T O N I C D Y S T R O P H Y

    F O U N D A T I O N

    Myotonic Dystrophy FounDation

    Toolkit

  • table oF contents

    Part 1: Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1

    . Letter.from.the.Executive.Director . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1

    . About.the.Myotonic.Dystrophy.Foundation. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3

    . Empowerment:.Shannon.Lord’s.perspective. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4

    . Paradigm.for.working.together:.dream.big . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6

    . Myotonic.Dystrophy.Foundation.Medical.and.Scientific.Advisory.Committee . . . . . . . . . . . . . . . . . . . . 8

    Part 2: Information for People and Families with DM . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11

    . Understanding.myotonic.dystrophy. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11

    . How.DM.affects.your.body. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12

    . Types.of.myotonic.dystrophy. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 13

    . Genetics.of.myotonic.dystrophy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17

    . Living.with.DM. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19

    . Resources.for.individuals.and.families. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 23

    . MDF.video.academy.—.list.of.educational.videos. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 24

    . Glossary. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 26

    . Key.milestones.in.myotonic.dystrophy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 33

    Part 3: Information for Medical Professionals. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 35

    . Overview. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 35

    . Genetic.causes.of.myotonic.dystrophy. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 37

    . Multisystemic.features.of.myotonic.dystrophy. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 46

    Part 4: Resources for Medical Professionals. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 71

    . DM1.health.supervision.checklist . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 72

    . Practical.suggestions.for.the.anesthetic.management.of.a.myotonic.dystrophy.patient . . . . . . . . . . . 73

    . Occupational.therapy.suggestions.for.the.management.of.a.myotonic.dystrophy.patient. . . . . . . . . . 81

    . Role.of.physical.therapy.in.the.assessment.and.management.of.individuals..

    . with.myotonic.dystrophy. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 91

    . Medical.References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 100

    .

  • Myotonic Dystrophy FounDation | toolkit 1

    part 1: introDuction letter FroM the executive Director

    Dear.Reader,

    Welcome.to.the.Myotonic.Dystrophy.Foundation.(MDF).and.our.MDF Toolkit ..

    Whether.you.are.reading.this.page.because.you.are.new.to.myotonic.dystrophy.(DM),.

    or.have.been.dealing.with.this.complex.condition.for.many.years,.you.are.probably.

    well.aware.of.the.challenges.it.presents ..

    At.MDF.we.are.committed.to.helping.you.and.others.like.you.navigate.the.challenges..

    of.DM ..Comprehending.the.mechanics.of.myotonic.dystrophy.can.help.you.manage.

    your.condition.and.actively.work.with.your.doctors ..To.that.end,.we’ve.put.together.this.information.package.

    with.the.guidance.of.the.MDF.medical.and.scientific.advisory.committee.members,.who.are.the.leading.

    experts.on.myotonic.dystrophy.and.who.together.have.devoted.over.one.hundred.years.to.the.research.and.

    treatment.of.DM .

    Some.of.the.helpful.pieces.you’ll.find.inside.the.MDF Toolkit.are:

    • Valuable information.compiled.by.MDF.to.educate.individuals.and.their.families,.as.well.as.detailed.

    resources.for.medical.providers .

    • Myotonic Dystrophy: The Facts. An.easy-to-understand.book.for.individuals.and.families.written.by.the.

    geneticist,.Dr ..Peter.Harper,.a.preeminent.expert.on.DM .

    • Medical Alert Card..A.wallet-sized.identification.card.for.affected.individuals.to.carry.with.them.to.alert.

    medical.providers.about.the.condition,.and.especially.the.dangers.of.anesthesia ..

    • Medical History Sheet..A.document.to.record.treatments,.medications.and.health.conditions.that.

    affected.individuals.can.share.with.their.providers .

    •. Information about.becoming.a.member.of.MDF,.how.to.find.additional.news.and.resources.via.our.

    website.(www .myotonic .org),.our.online.Community.Forum.(www .community .myotonic .org).and.other.

    opportunities.for.community.support.and.involvement .

    At.MDF,.it.is.our.mission.to.educate.families.and.medical.providers.about.DM,.in.order.to.improve.the.quality.

    of.life.of.people.living.with.the.disease,.and.to.maximize.efforts.focused.on.treatments.and.a.cure.for.DM ..

    Again,.welcome.to.the.MDF.community ..We.look.forward.to.working.with.you.in.the.fight.against.myotonic.

    dystrophy,.and.supporting.your.efforts.to.live.better.with.DM,.now.and.in.the.future .

    Best.wishes,

    Molly.White

  • 2. Myotonic Dystrophy FounDation | toolkit

  • Myotonic Dystrophy FounDation | toolkit 3

    about the Myotonic Dystrophy FounDation

    The.Myotonic.Dystrophy.Foundation.(MDF).is.a.non-profit.organization.founded.by.families.living.with.

    myotonic.dystrophy.(DM).in.2007 ..Through.education,.advocacy,.and.research,.MDF.is.committed.to.

    enhancing.the.quality.of.life.of.people.living.with.myotonic.dystrophy,.and.maximizing.efforts.focused.on.

    treatments.and.a.cure.for.DM .

    Based.in.Menlo.Park,.California,.MDF.partners.with,.and.complements.the.work.of,.the.Muscular.Dystrophy.

    Association.(MDA),.the.National.Institutes.of.Health.(NIH),.the.Centers.for.Disease.Control.and.Prevention.

    (CDCP),.and.other.governmental,.academic.and.philanthropic.agencies .

    The.MDF.website.(www .myotonic .org).serves.as.an.information.clearing-house.for.families.affected.by.

    myotonic.dystrophy,.physicians.and.other.medical.providers,.as.well.as.the.research.community ..The.MDF.

    online.Community.Forum.(www .community .myotonic .org).is.a.community-led.site.where.individuals.and.

    groups.interact,.share.information.and.stories,.ask.questions.and.find.support ..The.MDF.team.includes.the.

    staff,.the.Board.of.Directors,.made.up.of.business.and.governmental.leaders.and.many.individuals.whose.

    families.have.been.impacted.by.the.disease,.and.the.MDF.Medical.and.Scientific.Advisory.Committee,.a.

    group.of.leaders.from.academic,.clinical,.and.governmental.organizations .

  • 4. Myotonic Dystrophy FounDation | toolkit

    Shannon Lord.was.the.founding.chairman.of.MDF.and.a.board.

    member.from.2006.to.2009 ..She.has.the.mild.form.of.DM1.and.her.

    two.grown.sons.have.childhood.onset.DM ..She.has.been.a.speaker,.

    advocate,.and.fundraiser.for.the.myotonic.dystrophy.cause.for.nearly.10.years,.and.was.

    responsible.for.the.participation.

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