MUSCULAR DYSTROPHY

Presented by: Derrick A. Mason

DID YOU KNOW…

THAT APPROXIMATELY 1 IN EVERY 3,300 MALES WILL BE BORN WITH DUCHENNE MUSCULAR DYSTROPHY?

THIS PRESENTATION HIGHLIGHTS THE TYPES, SYMPTOMS, POTENTIAL TREATMENTS AND NEW MEDICAL DISCOVERIES OF MUSCULAR DYSTROPHY IN AN EFFORT TO INCREASE AWARENESS AND SENSITIVITY TOWARD THE DISORDER.

WHAT IS MUSCULAR DYSTROPHY

?MUSCULAR DYSTROPHY IS A

GROUP OF INHERITED DISORDERS THAT CAUSE MUSCLE WEAKNESS AND

WASTING OR DECREASE IN SIZE.

TYPES OF MUSCULAR DYSTROPHY• BECKER MUSCULAR DYSTROPHY

• CONGENITAL MUSCULAR DYSTROPHY

• DISTAL MUSCULAR DYSTROPHY

• DUCHENNE MUSCULAR DYSTROPHY

• EMERY-DREIFUSS MUSCULAR DYSTROPHY

• FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY

• LIMB-GIRDLE MUSCULAR DYSTROPHY

• MYOTONIC MUSCULAR DYSTROPHY

• OCULOPHARYNGEAL MUSCULAR DYSTROPHY

CAUSES OF MUSCULAR DYSTROPHY

MUSCULAR DYSTROPHY IS AN INHERITED GENETIC ABNORMALITY. IT CAN BE CARRIED BY A FEMALE WHO

DOES NOT HAVE SYMPTOMS, BUT PASSES IT ON TO MALE CHILDREN. IN OTHER CASES, IT MAY BE PASSED BY ONE OR BOTH PARENTS. IN STILL OTHER CASES, THERE

IS NO FAMILY HISTORY.

SYMPTOMS• WEAKNESS

• DUCK LIKE-GAIT

• LACK OF COORDINATION

• FALLING WITH DIFFICULTY GETTING UP

• MUSCLES APPEAR LARGER AND STRONGER BUT ARE WEAKER THAN NORMAL

TREATMENTTHERE CURRENTLY IS NO CURE FOR MUSCULAR DYSTROPHY AND TREATMENT PLANS ARE GEARED TOWARD MANAGING SYMPTOMS SO PATIENTS CAN LIVE AS LONG, FULL AND ACTIVE LIVES AS POSSIBLE. PEOPLE WITH MUSCULAR DYSTROPHY ARE ENCOURAGED TO:

• KEEP THEIR BODIES AS STRONG AND HEALTHY AS POSSIBLE BY ENGAGING IN REGULAR ACTIVITIES AND PHYSICAL THERAPY. BED REST AND LONG PERIODS OF INACTIVITY ACTUALLY MAKE THE DISEASE WORSE.

• PHYSICAL THERAPY CAN HELP A CHILD OR ADULT TO MAINTAIN AS MUCH STRENGTH AND FLEXIBILITY AS POSSIBLE.

• BRACES ON THE HANDS AND LEGS CAN HELP WITH MOBILITY AND TO KEEP STIFF JOINTS FROM CONTRACTING PERMANENTLY.

• TREATMENT IN SOME CASES MAY INCLUDE MEDICATIONS SUCH AS CORTICOSTEROID, WHICH MAY HELP TO SLOW PROGRESSION OF THE DISEASE.

• GENETIC COUNSELLING MAY BENEFIT FAMILIES WHO HAVE MUSCULAR DYSTROPHY IN THE FAMILY.

INNOVATIVE TEACHING STRATEGIES

• PARENT/STUDENT/TEACHER MEETINGS

• CHECK INTO IEP OR OTHER SPECIAL PLAN THAT MAY NEED TO BE ADMINISTERED

• ADDRESS MUSCULAR DYSTROPHY IN THE CLASSROOM TO PROMOTE STUDENT SENSITIVITY

• ENCOURAGE ACTIVE CLASSROOM PARTICIPATION TO HELP BOOST SELF-CONFIDENCE

• EXTENDED TIME FOR PROJECTS, ASSIGNMENTS, AND EXAMS

• COOPERATIVE LEARNING GROUPS

ASSISTIVE TECHNOLOGY IPAD: IPAD CAN RECORD LECTURES AT SCHOOL OR COLLEGE, SAVING YOU FROM TAKING NOTES.

VOCALLY INFINITY 3: WITH THE VOCALLY INFINITY 3, YOU CAN DIAL ANY PHONE WITH JUST YOUR VOICE. PC TECHNOLOGY: THE VOICE RECOGNITION SOFTWARE DRAGON NATURALLYSPEAKING 12 ALLOWS YOU TO SPEAK INTO A MICROPHONE AND CONTROL YOUR PC WITHOUT EVER LIFTING A FINGER.

ENVIRONMENTAL CONTROLS: A USB-UIRT, WHICH ALLOWS YOU TO BROADCAST INFRARED (IR) SIGNALS FROM YOUR PERSONAL COMPUTER. COMBINED WITH A PROGRAM CALLED GIRDER, THE USB-UIRT CAN LEARN THE IR CODES OF ANY REMOTE CONTROLLED DEVICE.

WHEELCHAIR DRIVING: NOW THERE ARE ALL KINDS OF INTERESTING WAYS YOU CAN DRIVE WHEELCHAIRS, BUT THE MOST POPULAR IS THE ASL MINI-PROPORTIONAL JOYSTICK.

MEDICAL DISCOVERIES• A PRECLINICAL STUDY LED BY RESEARCHERS AT CHILDREN’S NATIONAL MEDICAL CENTER HAS FOUND THAT A

NEW ORAL DRUG SHOWS EARLY PROMISE FOR THE TREATMENT OF DMD. THE RESULTS SHOW THAT THE DRUG, VBP15, DECREASES INFLAMMATION AND PROTECTS AND STRENGTHENS MUSCLE WITHOUT THE HARSH SIDE EFFECTS LINKED TO CURRENT TREATMENTS WITH GLUCOCORTICOIDS SUCH AS PREDNISONE.

• A RESEARCHER IN THE FACULTY OF MEDICINE & DENTISTRY AT THE UNIVERSITY OF ALBERTA IMPROVED DMD SYMPTOMS IN NON-HUMAN LAB MODELS, USING A NEW DRUG COCKTAIL. THE DRUG COMBINATION TARGETS THE “HOT SPOT” OF THE GENE MUTATION, MAKING THE CONDITION LESS SEVERE.

• THE MUSCULAR DYSTROPHY ASSOCIATION (MDA) IN TUCSON SAYS RESEARCHERS HAVE SUCCESSFULLY USED STEM CELLS TO TREAT DOGS WITH A FORM OF THE DISEASE THAT'S SIMILAR TO A TYPE FOUND IN HUMANS. RESEARCHERS USED A SPECIAL KIND OF STEM CELL THAT THEY ISOLATED FROM MUSCLE BIOPSIES OF LIVING DONORS.

STATISTICS• THE MUSCULAR DYSTROPHIES ARE THE MOST

COMMON FORM OF HEREDITARY DISEASE

• THE MOST COMMON FORM OF MUSCULAR DYSTROPHY IS DMD, FOLLOWED BY FMD AND MMD

• DMD HAS THE SECOND HIGHEST INCIDENCE OF ALL INHERITED DISEASES, APPROXIMATELY 1 IN 3300 LIVE MALE BIRTHS

• BMD AFFECTS 1 IN 18000 LIVE MALE BIRTHS

• CMD AFFECTS 1 PER 10,000 BIRTHS

FAMILY & COMMUNITY SERVICESMUSCULAR DYSTROPHY ASSOCIATION 3300 E. SUNRISE DRIVE, TUCSON, AZ 85718 WWW.MDAUSA.ORG

NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE WWW.NINDS.NIH.GOV P.O BOX 5801 BETHESDA MD. 20894 (301) 496-5751

PARENT PROJECT MUSCULAR DYSTROPHY WWW.PARENTPROJECTMD.ORG 401 HACKENSACK AVENUE, 9THFLOOR HACKENSACK, NJ 07601 (201) 250-8440

REFERENCES

• GRIFFITH, H. W., & MOORE, S. W. (2012). COMPLETE GUIDE TO SYMPTOMS, ILLNESS & SURGERY (REV. 6TH ED.). NEW YORK, NY: PENGUIN GROUP (USA) INCORPORATED.

• MUSCULAR DYSTROPHY. (2013, NOVEMBER 25). CENTERS FOR DISEASE CONTROL AND PREVENTION. RETRIEVED FEBRUARY 8, 2014, FROM HTTP://WWW.CDC.GOV/NCBDDD/MUSCULARDYSTROPHY/INDEX.HTML

• MDA | MUSCULAR DYSTROPHY ASSOCIATION. (N.D.). MUSCULAR DYSTROPHY ASSOCIATION. RETRIEVED FEBRUARY 9, 2014, FROM HTTP://MDA.ORG/

• EL-BOHY, A., & WONG, BRENDA L,M.B.B.S., M.R.C.P. (2005). THE DIAGNOSIS OF MUSCULAR DYSTROPHY. PEDIATRIC ANNALS, 34(7), 525-30. RETRIEVED FROM HTTP://EZPROXY.AACC.EDU/LOGIN?URL=HTTP://SEARCH.PROQUEST.COM/DOCVIEW/217545188?ACCOUNTID=40680