Muscular DystrophyMuscular Dystrophy

Beyond DuchenneBeyond Duchenne

Ann BubenzerAnn Bubenzer

ObjectivesObjectives Recognize patients that require referral Recognize patients that require referral

for diagnosis and management of for diagnosis and management of muscular disorders.muscular disorders.

Perform the history and physical exam to Perform the history and physical exam to screen for neuromuscular disorder for screen for neuromuscular disorder for patients of all ages.patients of all ages.

Describe current methods of diagnostic Describe current methods of diagnostic testing for neuromuscular disorders. testing for neuromuscular disorders.

Discuss current therapy and treatment Discuss current therapy and treatment options available and the affect on options available and the affect on prognosisprognosis

Presentations of patients with Presentations of patients with neuromuscular disordersneuromuscular disorders

Case 1Case 1

Called to evaluate newborn infant with Called to evaluate newborn infant with hypotonia. Pregnancy complicated hypotonia. Pregnancy complicated only by flu-like illness in 2only by flu-like illness in 2ndnd trimester trimester and question of decreased strength of and question of decreased strength of fetal movements compared to first fetal movements compared to first pregnancy. Labor and delivery pregnancy. Labor and delivery complicated by precipitous delivery.complicated by precipitous delivery.

Case 1 con’tCase 1 con’t

Physical exam reveals hypotonic Physical exam reveals hypotonic infant with high arched palate. infant with high arched palate. Physical exam is otherwise normal.Physical exam is otherwise normal.

Laboratory such as CBC and Laboratory such as CBC and electrolytes are normal.electrolytes are normal.

Case 2Case 2

4 year old presents to clinic with 4 year old presents to clinic with chief complaint of toe walking and chief complaint of toe walking and falling. The parents also state that falling. The parents also state that he has trouble with stairs and he has trouble with stairs and running. Sat alone at 8 months, running. Sat alone at 8 months, walking by 15 months.walking by 15 months.

On physical exam he demonstrates On physical exam he demonstrates walking up legs with hands in order walking up legs with hands in order to rise from seated position on floor. to rise from seated position on floor. Calves are prominent.Calves are prominent.

Case 3Case 3

14 y/o with difficulty lifting arms 14 y/o with difficulty lifting arms above head. On review of symptoms, above head. On review of symptoms, this adolescent states he has never this adolescent states he has never been able to blow up a balloon.been able to blow up a balloon.

On physical exam, scapular winging On physical exam, scapular winging is noted.is noted.

Case 4Case 4

Infant presents with narrow facies, ^ Infant presents with narrow facies, ^ shaped upper lip, and respiratory shaped upper lip, and respiratory distress after birth. Poor feeder distress after birth. Poor feeder requiring OG tube assistance. requiring OG tube assistance.

Mother has similar facial features. Mother has similar facial features. When you shake her hand, she can’t When you shake her hand, she can’t let go easily.let go easily.

History and Physical Exam in History and Physical Exam in the Newborn and Officethe Newborn and Office

HistoryHistory Newborn – floppy infant, term or Newborn – floppy infant, term or

preterm, poor head control, poor preterm, poor head control, poor feeding, prolonged labor, maternal feeding, prolonged labor, maternal complicationscomplications

Childhood development – delay in Childhood development – delay in sitting, standing, walking, toe walking, sitting, standing, walking, toe walking, difficulty stair climbing or runningdifficulty stair climbing or running

Teen or adult – difficulty in self-care, Teen or adult – difficulty in self-care, swallowing, athletic/endurance activity swallowing, athletic/endurance activity

Family HistoryFamily History Include enough of family tree to pick up Include enough of family tree to pick up

autosomal recessive disorders and X-autosomal recessive disorders and X-linked or AD disorders with variable linked or AD disorders with variable penetrancepenetrance

Many x-linked or AD represent new Many x-linked or AD represent new mutationsmutations

Past diagnoses in older family members Past diagnoses in older family members may not be accuratemay not be accurate

Review of SystemsReview of Systems School functioning/cognitive School functioning/cognitive

developmentdevelopment Cardiac function/arrhythmias/syncopeCardiac function/arrhythmias/syncope RespiratoryRespiratory

Physical exam findingsPhysical exam findings Muscle massMuscle mass: signs of wasting or : signs of wasting or

hypertrophy/pseudohypertrophy hypertrophy/pseudohypertrophy Muscle strengthMuscle strength: power – generation of : power – generation of

force against resistance or gravityforce against resistance or gravity Observe reaching, getting up from floorObserve reaching, getting up from floor Observe trunk and head/neck controlObserve trunk and head/neck control Test specific proximal groups – position so Test specific proximal groups – position so

against gravityagainst gravity ToneTone: resistance to passive movement: resistance to passive movement

Note hyper vs. hypotonia in weak areas Note hyper vs. hypotonia in weak areas Deep tendon reflexesDeep tendon reflexes: normal or decreased : normal or decreased Normal sensationNormal sensation: remember : remember

proprioceptionproprioception Joint contractureJoint contracture: reduced passive range of : reduced passive range of

motion not due to tone motion not due to tone

What is Muscular Dystrophy?What is Muscular Dystrophy?(MD)(MD)

Muscular DystrophyMuscular Dystrophy: group of genetic : group of genetic disorders that are characterized by disorders that are characterized by progressive loss of muscle integrity, progressive loss of muscle integrity, wasting, and weakness. Characterized by wasting, and weakness. Characterized by degeneration and regeneration of muscle degeneration and regeneration of muscle fibers (in contrast with static or structural fibers (in contrast with static or structural myopathies)myopathies)

Muscular Dystrophy AssociationMuscular Dystrophy Association Covers all muscular dystrophies and myopathiesCovers all muscular dystrophies and myopathies Multisystem diseases : ALS or Friedreich AtaxiaMultisystem diseases : ALS or Friedreich Ataxia Neuropathy : HSMN, CMTDNeuropathy : HSMN, CMTD

DystrophinopathyDystrophinopathy: disorders involving : disorders involving dystrophindystrophin

Duchenne MD and Becker MD are the Duchenne MD and Becker MD are the muscularmuscular disorders – the two most common disorders – the two most common and severe dystrophiesand severe dystrophies

Dystrophin is a very large gene on the X-Dystrophin is a very large gene on the X-chromosome, ubiquitous in the human body chromosome, ubiquitous in the human body

Dystrophin-Associated Protein (DAP) Dystrophin-Associated Protein (DAP) ComplexComplex – composed of the extracellular, – composed of the extracellular, transmembrane, and intracellular transmembrane, and intracellular components components

The Lancet NeurologyThe Lancet NeurologyVolume 2 • Number 5 • May 2003Volume 2 • Number 5 • May 2003Copyright © 2003 Elsevier Copyright © 2003 Elsevier

General Diagnostic TestingGeneral Diagnostic Testing Creatine kinaseCreatine kinase : :

Aids in narrowing the differential diagnosis Aids in narrowing the differential diagnosis if greatly elevated (50 times normal)if greatly elevated (50 times normal)

Increased in DMD, BMD, polymyositis, and Increased in DMD, BMD, polymyositis, and rhabdomyolysisrhabdomyolysis

Nonspecific if mildly elevated 2-3x normalNonspecific if mildly elevated 2-3x normal Lower late in MD course due to severely Lower late in MD course due to severely

reduced muscle massreduced muscle mass Not helpful for carrier detection Not helpful for carrier detection

Muscle biopsyMuscle biopsy Dystrophic changes include necrosis, Dystrophic changes include necrosis,

degeneration, regeneration, fibrosis and degeneration, regeneration, fibrosis and fatty infiltration, sometimes mild fatty infiltration, sometimes mild inflammation inflammation

Specific diseases may have Specific diseases may have inflammation, intracellular vacuoles, inflammation, intracellular vacuoles, rods, and other inclusions on biopsy rods, and other inclusions on biopsy

Biochemical muscle protein analysisBiochemical muscle protein analysis Useful for specific identified protein that Useful for specific identified protein that

is missing and many specific mutations is missing and many specific mutations may cause the same deficiency may cause the same deficiency

Immunohistochemical protein stainingImmunohistochemical protein staining Western blot – quantitates percent of Western blot – quantitates percent of

normal protein presentnormal protein present

Genetic analysisGenetic analysis PCR for specific known defectsPCR for specific known defects Southern blot for nucleotide repeats Southern blot for nucleotide repeats

ElectromyographyElectromyography Useful if diagnosis not clear (biopsy has Useful if diagnosis not clear (biopsy has

mixed features)mixed features) Differentiates neuropathic vs. myopathicDifferentiates neuropathic vs. myopathic Characteristic myotonic discharges in Characteristic myotonic discharges in

adults with myotonia – “dive bomber” adults with myotonia – “dive bomber” soundsound

Perform after the CKPerform after the CK

Duchenne Muscular Duchenne Muscular DystrophyDystrophy

Presentation: 3-5 y/o with Presentation: 3-5 y/o with pseudohypertrophy of calf muscles, frequent pseudohypertrophy of calf muscles, frequent falls, slow running, and waddling gait falls, slow running, and waddling gait

Prevalence of 1:3500 Prevalence of 1:3500 Other organs affected Other organs affected

Heart – cardiomyopathyHeart – cardiomyopathy Respiratory Respiratory Intellect - 30 % with impairment IQ <75 Intellect - 30 % with impairment IQ <75

TestingTesting Immunostaining with absence of dystrophinImmunostaining with absence of dystrophin PCR testing available for common mutations PCR testing available for common mutations

(X21.2)(X21.2)

Becker Muscular DystrophyBecker Muscular Dystrophy

Slowly progressive form with same Slowly progressive form with same gene affected as Duchenne MD gene affected as Duchenne MD

Muscle biopsy immunostaining for Muscle biopsy immunostaining for dystrophin with patchy stainingdystrophin with patchy staining

Disorder of function or decreased Disorder of function or decreased amount of dystrophin rather than amount of dystrophin rather than absence of the protein absence of the protein

Congenital Muscular Congenital Muscular DystrophyDystrophy

PresentationPresentation: neonatal onset of : neonatal onset of severe weakness, delayed motor severe weakness, delayed motor milestones, contracturesmilestones, contractures

Merosin negative/CMD A1Merosin negative/CMD A1 White matter hypodensities on brain White matter hypodensities on brain

scan but normal mental capacity scan but normal mental capacity Diagnosis by muscle biopsy Diagnosis by muscle biopsy

immunohistochemistry showing loss of immunohistochemistry showing loss of αα2-laminin (AR-chromosome 6q22-23)2-laminin (AR-chromosome 6q22-23)

Neuronal Migration Neuronal Migration DisordersDisorders

With neuronal migration disorders get With neuronal migration disorders get mental retardation, brain malformations, mental retardation, brain malformations, and clinical eye involvementand clinical eye involvement

Fukuyama’s muscular dystrophyFukuyama’s muscular dystrophy – affects – affects fukutin protein (AR – chromosome 9q31) fukutin protein (AR – chromosome 9q31)

Muscle-eye-brain diseaseMuscle-eye-brain disease – affects – affects POMGnT1, (AR – chromosome 1p32-34)POMGnT1, (AR – chromosome 1p32-34)

Walker WarburgWalker Warburg – affects POMT1 (AR) – affects POMT1 (AR) Glycosyltransferases are also important Glycosyltransferases are also important

in neuronal developmentin neuronal development

Other Merosin Positive CMDOther Merosin Positive CMDDisorder Protein Associated signs Inheri-tance Chromosome

Rigid Spine Disease

SEPN1 (selenoprotein)

Slowly progressiveSpine contractures

AR 1p36

Ullrich CMD COL6A2 Rapidly progressiveJoint hyperlaxity

AR 21q22

Bethlem myopathy

Type VI collagen subunits

Slowly progressiveMyopathy?

AD 21q22 and 2q37

Integrin a7 deficiency

Integrin a7 AR 12q13

CMD 1C Fukutin-related protein

Rapidly progressiveCardiomyo-pathy

AR 19q13

Myotonic Muscular Dystrophy Myotonic Muscular Dystrophy or Steinert’s diseaseor Steinert’s disease

Presentation – adult with multiple systems Presentation – adult with multiple systems affectedaffected

Primarily distal and facial weaknessPrimarily distal and facial weakness Facial features: frontal balding in men, ptosis, Facial features: frontal balding in men, ptosis,

low-set ears, hatchet jaw, dysarthria, swan low-set ears, hatchet jaw, dysarthria, swan neck, ^ shaped upper lipneck, ^ shaped upper lip

Myotonia: worse in cold weather, after age 20Myotonia: worse in cold weather, after age 20 Heart: conduction block – evaluate syncopeHeart: conduction block – evaluate syncope Smooth muscle: constipation, care with Smooth muscle: constipation, care with

swallowing, gallstones, problems with swallowing, gallstones, problems with childbirth, BP labilitychildbirth, BP lability

Brain: learning disabilities, increased sleep Brain: learning disabilities, increased sleep requirementrequirement

Ophthalmology: cataractsOphthalmology: cataracts Endocrine: insulin resistance, hypothyroidism, Endocrine: insulin resistance, hypothyroidism,

testicular atrophytesticular atrophy

Genetics:Genetics: Mothers can have adult or congenital onset Mothers can have adult or congenital onset

offspring; fathers can have adult onset offspringoffspring; fathers can have adult onset offspring Parents may not be aware of own diagnosisParents may not be aware of own diagnosis Myotonin gene is affected as well as adjacent Myotonin gene is affected as well as adjacent

transcription factor gene SIX 5 by CTG repeat in transcription factor gene SIX 5 by CTG repeat in noncoding region of chromosome 19q13.3, and noncoding region of chromosome 19q13.3, and anticipation seen with increased repeatsanticipation seen with increased repeats

Muscle biopsy with internalized nuclei, type 1 Muscle biopsy with internalized nuclei, type 1 fiber atrophy, ring fibers, and sarcoplasmic fiber atrophy, ring fibers, and sarcoplasmic massesmasses

Congenital: severe form, initial respiratory Congenital: severe form, initial respiratory distress after birth with ventilatory distress after birth with ventilatory requirement or apnea, feeding difficulty, requirement or apnea, feeding difficulty, mental retardation, club feet, scoliosis, mental retardation, club feet, scoliosis, strabismus strabismus

FascioScapularHumeral FascioScapularHumeral Muscular DystrophyMuscular Dystrophy

Presentation:Presentation: Facial weakness with trouble blowing up a Facial weakness with trouble blowing up a

balloon, sipping through a straw, whistling, balloon, sipping through a straw, whistling, trouble closing the eyes at night, scapular trouble closing the eyes at night, scapular winging that may be asymmetric, painwinging that may be asymmetric, pain

May have absence of pectoralis, biceps, or May have absence of pectoralis, biceps, or brachioradialisbrachioradialis

Also affected: mild high pitched hearing loss, Also affected: mild high pitched hearing loss, retinal abnormalities, mental retardation in retinal abnormalities, mental retardation in early onsetearly onset

Genetics/TestingGenetics/Testing Southern blot testing available (chromosome Southern blot testing available (chromosome

4q35) for decrease in repeats normally present 4q35) for decrease in repeats normally present Muscle biopsy may show lymphocytic infiltratesMuscle biopsy may show lymphocytic infiltrates

Limb Girdle Muscular Limb Girdle Muscular DystrophyDystrophy

Presentation: variable age of onset with Presentation: variable age of onset with weakness and wasting of the limb-girdle weakness and wasting of the limb-girdle

May have calf hypertrophy, involvement May have calf hypertrophy, involvement of scapular muscle and deltoid in of scapular muscle and deltoid in sarcoglycanopathiessarcoglycanopathies

Many types involve dysfunctional Many types involve dysfunctional sarcoglycans – transmembrane proteins sarcoglycans – transmembrane proteins of the DAP that interact with cytoplasmic of the DAP that interact with cytoplasmic proteinsproteins

Table 2 – types of LGMDTable 2 – types of LGMD

Type Protein Chromosome Inheritance

1A Myotilin 5q22-34 AD

1B Laminin A/C 1q21 AD/allelic to EDMD

1C Caveolin-3 3p25 AD

1D 7q AD

2A Calpain-3 15q15-21 AR

2B Dysferlin 2p13 AR/allelic to Myoshi Myopathy

2C Gamma sarcoglycan

13q12 AR

2D Alpha sarcoglycan 17q12-21 AR

2E Beta sarcoglycan 4q12 AR

2F Delta sarcoglycan 5q33-34 AR

2G Telethonin 17q11-12 AR

2H 9Q33 AR

2I Fukutin-related protein

19q13 AR/allelic to CMD 1C

Oculopharyngeal Muscular Oculopharyngeal Muscular DystrophyDystrophy

Presentation: mid-adult with ptosis, facial Presentation: mid-adult with ptosis, facial muscle weakness with difficulty muscle weakness with difficulty swallowing, proximal muscle weakness, swallowing, proximal muscle weakness, may have extraocular muscle weakness, may have extraocular muscle weakness, more common in French-Canadian and more common in French-Canadian and Hispanic populationHispanic population

Genetics Genetics Muscle biopsy shows filamentous nuclear Muscle biopsy shows filamentous nuclear

inclusions and ubiquitin containing vacuolesinclusions and ubiquitin containing vacuoles Affects poly A binding protein 2 (PABP2) by Affects poly A binding protein 2 (PABP2) by

expansion of a GCG repeat without anticipation expansion of a GCG repeat without anticipation seen – Southern blot (chromosome 14q11-13)seen – Southern blot (chromosome 14q11-13)

Emery-Dreifuss Muscular Emery-Dreifuss Muscular DystrophyDystrophy

Scapuloperoneal MDScapuloperoneal MD Presentation: stiff joints, shoulder and Presentation: stiff joints, shoulder and

upper arm weakness, calf weakness, upper arm weakness, calf weakness, cardiac conduction defects and cardiac conduction defects and arrhythmias, contracturesarrhythmias, contractures

GeneticsGenetics X-linked type affects emerinX-linked type affects emerin

Diagnose by protein analysis of leukocytes or skin Diagnose by protein analysis of leukocytes or skin fibroblastsfibroblasts

DNA testing available (chromosome Xq28)DNA testing available (chromosome Xq28) AD affects lamin A or lamin C (chromosome AD affects lamin A or lamin C (chromosome

1q21)1q21) Nuclear membrane proteinsNuclear membrane proteins

Distal Muscular DystrophyDistal Muscular Dystrophy Presentation: weakness in forearms, hands, and lower legsPresentation: weakness in forearms, hands, and lower legs

clinically similar to a neuropathy but NCV normalclinically similar to a neuropathy but NCV normal Muscle biopsy with autophagocytic vacuoles/ inclusion Muscle biopsy with autophagocytic vacuoles/ inclusion

bodiesbodies Table 3 – Types of DMDTable 3 – Types of DMD

Welander distal myopathyWelander distal myopathy AD/2p13AD/2p13 hands firsthands first

Anterior tibial/Markesbery-Anterior tibial/Markesbery-Griggs/UddGriggs/Udd

AD/2q31-AD/2q31-3333

Nonaka/Inclusion body Nonaka/Inclusion body myopathy 2myopathy 2

AR/9p13AR/9p13 Rimmed vacuoles, Rimmed vacuoles, inclusion bodies, affects inclusion bodies, affects GNEGNE

Gowers/Laing distal myopathyGowers/Laing distal myopathy AD/14q11AD/14q11

Miyoshi myopathyMiyoshi myopathy AR/2p13AR/2p13 Affects dysferlinAffects dysferlin

Distal myopathy with vocal cord Distal myopathy with vocal cord and pharyngeal weaknessand pharyngeal weakness

AD/5AD/5

MyopathiesMyopathies

Central core disease: Central core disease: Ryanodine receptor, Ca channel that mediates Ryanodine receptor, Ca channel that mediates

excitation/contraction coupling, (AD – chromosome excitation/contraction coupling, (AD – chromosome 19q13)19q13)

Associated with Malignant HyperthermiaAssociated with Malignant Hyperthermia Myotubular myopathyMyotubular myopathy

Myotubularin, important in myogenesis (Xq28)Myotubularin, important in myogenesis (Xq28) Nemaline MyopathyNemaline Myopathy

Caused by many defects, disorder of thin filamentsCaused by many defects, disorder of thin filaments Rod-like stuctures on muscle biopsyRod-like stuctures on muscle biopsy

InflammatoryInflammatory Juvenile DermatomyositisJuvenile Dermatomyositis Inclusion Body Myositis (usually distal)Inclusion Body Myositis (usually distal) Adult Polymyositis (associated with malignancy)Adult Polymyositis (associated with malignancy)

Treatment - MedicationsTreatment - Medications Steroids Steroids

Briefly increase strength, slow progression in Briefly increase strength, slow progression in dystrophinopathy for walking, arm use, and dystrophinopathy for walking, arm use, and respiratory functionrespiratory function

Weekend or 15-20/month as well as Weekend or 15-20/month as well as prednisolone/deflazacort may minimize SEprednisolone/deflazacort may minimize SE

Dilantin and Tegretol raise the Dilantin and Tegretol raise the repolarization threshold and improve repolarization threshold and improve myotoniamyotonia

Methylphenidate improves daytime Methylphenidate improves daytime somnolence in DMsomnolence in DM

Albuterol may help in FSH MDAlbuterol may help in FSH MD Creatine and glutamine may help delay Creatine and glutamine may help delay

progression/improve energy in youngest progression/improve energy in youngest with DMDwith DMD

Treatment – future Treatment – future therapiestherapies

Genetic therapiesGenetic therapies Repairing the mutated sequencesRepairing the mutated sequences

Using cell’s own repair mechanisms but adding Using cell’s own repair mechanisms but adding templatetemplate

Gentamicin trial for relaxation in stop codon Gentamicin trial for relaxation in stop codon recognition for DMD has not workedrecognition for DMD has not worked

Replacing the mutated sequencesReplacing the mutated sequences Inserting truncated genes or whole gene with vectorInserting truncated genes or whole gene with vector

Upregulation of similar functioning Upregulation of similar functioning proteinsproteins Utrophin in DMDUtrophin in DMD

TherapyTherapy

Contracture preventionContracture prevention Stretching exercises and postural Stretching exercises and postural

changingchanging Stretch the most contracture prone Stretch the most contracture prone

groups (gastrocnemius, hip flexors, groups (gastrocnemius, hip flexors, iliotibial bands, hamstrings)iliotibial bands, hamstrings)

AFO at night to supplement AFO at night to supplement

Strengthening/conditioning/enduranceStrengthening/conditioning/endurance Goal is to maintain or improve muscle Goal is to maintain or improve muscle

strength and maximize functional ability strength and maximize functional ability – slight improvement is possible– slight improvement is possible

Additional goal is to avoid muscular Additional goal is to avoid muscular damage by overwork or injurydamage by overwork or injury

No eccentric contraction or delayed sorenessNo eccentric contraction or delayed soreness Voluntary active exercise such as Voluntary active exercise such as

swimming/hydrotherapy or cycling in swimming/hydrotherapy or cycling in ambulatory children currently ambulatory children currently recommendedrecommended

Mobility aidsMobility aids Walking orthoses – KAFOWalking orthoses – KAFO Standing frames, standing wheelchairs, swivel Standing frames, standing wheelchairs, swivel

walker occasionally usedwalker occasionally used Walkers where arm strength less affectedWalkers where arm strength less affected Transfer boardTransfer board Wheelchair – power needed for independenceWheelchair – power needed for independence Plan for indoor lift, van with lift, roll in shower Plan for indoor lift, van with lift, roll in shower

Improving daily activities of daily livingImproving daily activities of daily living Physical and Occupational Therapy – teaching Physical and Occupational Therapy – teaching

modified techniquesmodified techniques Antigravity orthoses are being developed to Antigravity orthoses are being developed to

assist in daily living activitiesassist in daily living activities Splinting and therapy to prevent hand Splinting and therapy to prevent hand

contractures contractures

comfysplints.cocomfysplints.comm

SurgerySurgery note the risk inherent to surgery – note the risk inherent to surgery –

malignant hyperthermiamalignant hyperthermia Palliative vs. rehabilitativePalliative vs. rehabilitative Tendon releasesTendon releases

Achilles Achilles Need KAFO to walk post-opNeed KAFO to walk post-op Relieves pain and allow shoe wearRelieves pain and allow shoe wear

Hamstring and iliotibial bandHamstring and iliotibial band Relieves hip and knee pain or contractureRelieves hip and knee pain or contracture Allows better gait compensationAllows better gait compensation

Scoliosis – spine stabilizationScoliosis – spine stabilization Bracing is not effective with progressive Bracing is not effective with progressive

neuromuscular diseaseneuromuscular disease Timely correction of scoliosis is important Timely correction of scoliosis is important

for patient comfort and respiratory abilityfor patient comfort and respiratory ability Spine and scapular stabilization may aid Spine and scapular stabilization may aid

function of armsfunction of arms OphthalmologyOphthalmology

Deficient eye closure oculomaxillofacial Deficient eye closure oculomaxillofacial MD and FSH MD may require artificial MD and FSH MD may require artificial tears or tarsorrhaphytears or tarsorrhaphy

Treatment for cataracts in Myotonic MDTreatment for cataracts in Myotonic MD

RespiratoryRespiratory Patients with morning headache, Patients with morning headache,

nightmares, excessive daytime nightmares, excessive daytime somnolence, mental dullness, difficulty somnolence, mental dullness, difficulty concentrating, increased colds, coughing, concentrating, increased colds, coughing, or pneumonia should undergo evaluationor pneumonia should undergo evaluation

Influenza vaccine and pneumococcal Influenza vaccine and pneumococcal vaccinevaccine

In-exsufflator for airway clearance, cough In-exsufflator for airway clearance, cough assistassist

Pulmonologist, pulmonary function Pulmonologist, pulmonary function testing testing

Assisted noninvasive ventilationAssisted noninvasive ventilation Oxygen alone does not ventilate!Oxygen alone does not ventilate! Positive pressure ventilation vs. volume Positive pressure ventilation vs. volume

ventilation with pressure limitventilation with pressure limit Assisted ventilation with tracheostomyAssisted ventilation with tracheostomy

Talk to patient about degree of desired Talk to patient about degree of desired intervention when respiratory status first intervention when respiratory status first starts to decline and before an acute event starts to decline and before an acute event

The goal is home ventilationThe goal is home ventilation CardiologyCardiology

EKG – pacemaker for conduction defects EKG – pacemaker for conduction defects and arrhythmiasand arrhythmias

Echocardiogram – afterload reduction, Echocardiogram – afterload reduction, digoxin for cardiomyopathydigoxin for cardiomyopathy

Nutrition/GINutrition/GI Overweight and underweight are Overweight and underweight are

common problemscommon problems Overweight impairs mobilityOverweight impairs mobility Underweight decreases strength & Underweight decreases strength &

healthhealth Protein and calorie supplementsProtein and calorie supplements Assess for dysphagiaAssess for dysphagia Intestinal hypomotility in DMD, CMD, Intestinal hypomotility in DMD, CMD,

and myotonic dystrophy can require and myotonic dystrophy can require a bowel regimen to prevent a bowel regimen to prevent constipationconstipation

Osteopenia/OsteoporosisOsteopenia/Osteoporosis Begins before walking stops, fractures Begins before walking stops, fractures

may end walkingmay end walking Worsened by steroidsWorsened by steroids Calcium supplements, Miacalcin may Calcium supplements, Miacalcin may

helphelp Psychology/NeuropsychologicalPsychology/Neuropsychological

Education – aid in planningEducation – aid in planning Special education may not be needed Special education may not be needed

with accomodation and modificationswith accomodation and modifications Progressive loss of function affects Progressive loss of function affects

patient and familypatient and family

Thank youThank you

My familyMy family Dr. Vikki StefansDr. Vikki Stefans Dr. Robert WarrenDr. Robert Warren