Duchenne Muscular Dystrophy

Katherine Penn, MOT/S

University of Tennessee Health Science
Center
 Duchenne Muscular Dystrophy
● Most common form of muscular dystrophy in childhood
● Progressive skeletal muscle disorder caused by mutations in the X-linked DMD gene,
resulting in absence of dystrophin, a major muscle protein
● Progressive loss of muscle function and weakness, which begins in the lower limbs and
often leads to loss of independent ambulation by age of 13 years
 Prevalence and Incidence
● Incidence: 1 in 3,300 male births
● Gender Prevalence: Males more likely to be affected
● Comparison: The prevalence of Duchenne muscular dystrophy (DMD) was three times
higher than the prevalence of Becker muscular dystrophy (BMD)
● Demographics:
○ The prevalence of DMD among Non-Hispanic blacks was lower than the prevalence
among Hispanics and Non-Hispanic white.
 Pathology: Causes and Inheritance
● Mutations may involve insertions of deletion of nucleotide bases.
In DMD, it involves deletion of dystrophin gene, the 2nd largest gene.
● Abnormal muscle creatine phosphokinase (CPK) levels and
microscopic signs of muscle damage may be observed at birth.
● Each son born to a woman with a dystrophin mutation on one of her
two X chromosomes has a 50% chance of inheriting the
flawed gene and having DMD.
● Can occur with no family history of the disease:
○ The genetic mutation leading to DMD may have existed in the females of a
family for some generations without anyone knowing it.
○ The second possibility is that the child with DMD has a new genetic
mutation that arose in one of his mother’s egg cells.
Progression and Diagnosis
 Progression
When does muscle weakness typically begin?
● Before 5 years
● Symptom onset usually between ages 3-5
● Muscle weakness can begin as early as age 3, first affecting the muscles of the hips, pelvic area,
thighs and shoulders, and later the skeletal (voluntary) muscles in the arms, legs and trunk.

● These weaknesses lead to difficulty in rising from the floor, climbing stairs, maintaining balance
and raising the arms.
● The typical boy with DMD continue to make progress with motor skills till age 4-6.

Transition to Wheelchair
● Usually begins between ages 7-12 years.
● Process is gradual, first used to conserve energy
 Progression
Life Expectancy:
● Until recently, boys did not survive beyond teen years.
● Mean age of death without treatment is around 19 years of age.
● With advances in cardiac and respiratory care, life expectancy is increasing and many young
adults with DMD attend college, have careers, get married and have children.
● Survival into the early 30s is becoming more common, with more cases of men living into
their 40s and 50s.
 Diagnosis
● Diagnosis should be done by neuromuscular specialist who can assess the child clinically.
● Family follow-up and support after diagnosis should be augmented by support from
geneticists and genetic counselors.
● Child is typically diagnosed at around 5 years of age but may be sooner because of delays
in developmental milestones, such as independent walking or language.

Confirmation of the diagnosis:

● Blood sample always necessary
● Genetic testing
● Muscle biopsy (mandatory following positive muscle biopsy)
 Signs and Symptoms
● Has a hard time lifting his neck
● Late walker (Mean age: 18 mo.)
● Enlarged calf muscles-aka pseudohypertrophy, or false enlargement, because muscle tissue
is abnormal and may contain scar tissue
● Gowers’ maneuver to arise from the floor
● Clumsy, may fall often
● May walk on toes or with legs apart and have a waddling gait
● Difficulty climbing stairs, getting up from floor, running
● To keep balance, may stick out stomach and pull shoulders
back
● May have difficulty raising arms
Signs and Symptoms

Pseudohypertrophy, or enlarged calf

muscles
Stages of Disease
1. Stage 1: Presymptomatic
a. Can be diagnosed if creatine kinase found to be raised or if positive family history
b. Developmental delay but no gait disturbance
2. Stage 2: Early ambulatory
a. Gower’s sign
b. Waddling gait
c. Toe walking
d. Can climb stairs
3. Stage 3: Late ambulatory
a. Increasingly labored gait
b. Losing ability to climb stairs and rise from floor
4. Stage 4: Early non-ambulatory
a. Might be able to self propel
b. Can maintain posture
c. May develop scoliosis
5. Stage 5: Late non-ambulatory
a. Upper limb function and postural maintenance increasingly limited
Video: Learn More About DMD
Duchenne’s Impact on the Body

● Cognitive functioning
● Language function
● Respiratory and cardiac functioning
● Muscular function
Multidisciplinary Approach
● Neurologist
● Neurogeneticist
● Pediatrician
● Rehabilitation
○ PT, OT, SLP
● Respiratory therapy
● Child life specialist
● Nursing
● Dietician
● Psychologist
● Social worker
● Teachers
 PT & OT Interventions
● Stretching and positioning
○ Increase muscle extensibility & prevent contractures
● Splinting & Orthoses
● Seating & Standing devices
● Adaptive equipment/Assistive technology
● Manual/Motorized wheelchairs
● Pain management
● Submaximum exercise/activity
○ Exercises to improve muscle and trunk strength & using good posture and body mechanics
● Exercises for breathing
● Improving overall developmental skills
● Maximizing functional independence (ADL’s & IADL’s, play & leisure)
 Physical Barriers & Management
● Stretching & positioning:
○ Active, active-assisted, passive, prolonged elongation using positioning, splinting, orthoses, and
standing devices
○ Stretching to minimize contractures: 4-6 days/wk for any specific joint or muscle group
○ Both ambulatory and non-ambulatory phase: stretch at ankle, knee, and hip
○ Non-ambulatory phase: stretch BUEs (wrist, elbow, finger flexors, and shoulder joints)

● Possible assistive devices:

○ Orthoses, joint positioning, and standing programs
○ Night splints (AFOs) worn to prevent contractures
○ KAFOs-early non-ambulatory phases when walking is very difficult to control joint tightness & prolong
onset of scoliosis
○ Resting hand splints for tight long finger flexors
○ Standing devices
○ Early ambulatory stage: lightweight mobility device
○ Early non-ambulatory stage: ultra lightweight manual wheelchair
○ Late non-ambulatory stage: power wheelchair
 Physical Barriers & Management cont.
● Fractures are common
○ Increased frequency with glucocorticoids
● Bone health management
● Contractures common in LE’s due to muscle fibers shortening and fibrosis in connective tissue
 Physical Activity
● Participation in submaximum (gentle) functional strengthening/activity, including swimming
pool exercises and respiratory exercise
● Low resistance strength training and optimization of upper body function
 OT Outcome Measures/Assessments
● MMT & ROM:
○ Test in non-ambulatory stages to monitor muscle imbalance and muscle hypoextensbility
○ ROM: elbow, wrist, long finger flexors
● ADL’s:
○ Clinical observation
○ PEDI
○ WeeFIM
○ AMPS
● School & Overall Motor Skill Functioning
○ PDMS
○ Beery VMI
○ TVPS
○ SFA
○ HWT screener
○ BOT-2
 OT Treatment Considerations
● ADLs
○ Energy conservation, modified techniques, adaptive equipment
■ Ex.- Using tub bench to avoid stepping into shower due to poor balance
■ Ex.-Using a battery operated toothbrush
■ Ex.-Teaching new modified dressing techniques
○ Fine motor coordination, UB strength, and ROM to complete ADLs
● Play and leisure participation
● Learning and behavioral delays
○ Sequencing, processing, and attention
● School functioning
○ Fine motor and visual perceptual skills
○ Adapting tasks in the classroom (ex.-typing rather than writing)
● Social emotional functioning
● Community navigation
● Postural management
● Pain and fatigue management
● Improving overall strength and endurance (ex.- developing HEP)
 PT Outcome Measures/Assessments:
● MMT:
○ MMT LE’s approximately every 6 months
● ROM-For baseline to identify emerging muscle hypoextensibiltiy and joint contractures that may lead to
functional deterioration, musculoskeletal, or integumentary problems
○ BLEs: hip, knee, ankles, iliotibial band, hamstrings, gastrocnemius
○ To identify need for orthoses, splinting, stander, iliotibial band lengthening
● Timed Testing:
○ Timed walking, timed Gower’s maneuver
● Standardized testing
 SLP & Dietary Considerations
Assessment for speech and language therapy services is necessary for:

● Younger children who present with suspected delays in speech and/or language development
● Older children who present with loss or impairment of functional communication ability
● Evaluating cognitive delays (delayed verbal memory and phonological processing)
● Evaluate for swallowing deficits (monitoring dysphagia in later stages)

Treatment:
● Oral motor exercises and articulation therapy for young boys with hypotonia & older patients with
deteriorating oral muscle strength and/or impaired speech intelligibility

Swallowing examination is indicated if there is unintentional weight loss of 10% or more or a decline in
expected weight gain.
● Other Indicators: Prolonged mealtimes (>30 min.), spilling, drooling, gagging, choking, aspiration
pneumonia, pulmonary dysfunction, or fever
 Medical Management
● Glucocorticoids, a class of corticosteroids, are the only medication available that slows the
decline in muscle strength and function in DMD.
● Reduces risk of scoliosis and stabilizes pulmonary function
● Initiation of glucocorticoid treatment not recommended for child who is still gaining motor
skills
● Usually begun after age 6
● Prednisone, a glucocorticoid has been known to prolong the ability to walk by 2-5 years
○ Side effects: weight gain, behavior changes, delayed puberty, high BP, cataracts,
bone demineralization and increased fracture risk
Let’s Discuss!

❖ In what ways can all three disciplines collaborate to improve progress and
functioning in children with Duchenne Muscular Dystrophy?

❖ Describe your experiences of working with children or individuals with

Duchenne Muscular Dystrophy. If you don’t have any experiences with this
specific diagnosis, describe experiences working with children with other types
of muscular dystrophy or neuromuscular disorder. What are some treatment
strategies you have emphasized with this population?

❖ In what ways will the child’s function in their environments (school, home, and
community) be impacted as the disease progresses.
Effects of Living with DMD on School and Daily Life:
Energy Conservation Techniques
Energy Conservation: School Modifications
● Routine and consistency
● Set Priorities:
○ Reduce tasks that are not necessary

○ Eliminate tasks that involve busy work i.e. homework

○ Allow oral test taking in lieu of written to aide with energy conservation

○ Stop an activity BEFORE becoming exhausted

● Classroom Set-up:
○ Adjust work station so that elbows, hips, knees, and ankles are positioned at 90 degrees

○ Keep items within easy reach to avoid over-reaching and bending

○ Keep heavier items at arm level

 Energy Conservation: School Modifications

Eliminate Extra Physical Effort:

● Have child sit in a chair instead of on the floor
● Decrease the weight of items carried i.e. lunchbox, backpack
● Use adaptive equipment i.e. rolling backpack
● Use pencil grips or thick pencils/pens to avoid application of excessive pressure
● Encourage good posture i.e. use back supports on chairs
● Encourage sliding objects when possible to avoid lifting/carrying
● Consider assigning a buddy to help i.e. to pick up items from the floor; tying shoes
 Energy Conservation: School Modifications
Advanced Planning:
● Do not begin an activity that cannot be stopped
● Help in gathering all material prior to starting a project
● Build in rest breaks into daily schedule. Sometimes a few minutes will be enough. Other
times a longer nap will be required.Avoid rushing
● Schedule adequate time for activities
● Alternate tasks throughout the day- balance between level of physical intensity (low/high) For
example, first snack time then PE.
● Build in time for campus transitions. If ambulatory, allow for rest stops along the route.
● Avoid stairs as stairs increase the stress on the muscles and hastens muscle damage
● Avoid overscheduling activities between home and school (maintain communication lines)
● When scooter/wheelchair is part of equipment in use, utilize this for distances over 100 feet
 Energy Conservation Techniques: ADLs
Lower body Dressing:
● Doffing pants: Tuck both thumbs in pants and undergarment to assist with sliding pants
down. Can also finish in seated position.
● Donning pants: Tuck thumbs in front of pants and slide around to back of pants to assist with
pulling pants up. Don pants and undergarment together if possible to save energy. To pull up
pants without standing, stay seated and shift your weight from side to side.
● Can also sit down and complete half of LB dressing in seated position before standing up or
sitting down.
● Shoes: Velcro shoes when lacing becomes difficult. Can prop foot on higher surface if
bending down low is difficult.
● Eventually, use of AE (Long handled equipment: Reacher, dressing stick, shoehorn, sock
aid)

Upper body dressing:

● Hold onto arm holes and sides of shirt and pull shirt overhead
 Energy Conservation Techniques: ADLs
Bathing:
● Plan to take bath when energy levels are higher
● Gather all materials ahead of time
● AE: long handled sponge, shower head, shower chair

Grooming:
● Keep all grooming items within reach
● Sit as you work

Feeding:
● Using adaptive equipment
● Monitoring postural support
Additional Areas Affected
● Cognitive functioning
● Language function
● Nutrition
● Sleep
● Respiratory and cardiac functioning
● Psychosocial function
 Cognitive Functioning
● ⅓ of boys with DMD have a LD
● Lower than average IQ scores reported in individuals with DMD
● Boys may present with dyspraxia
● Cognitive areas affected more than others:
○ Verbal learning and memory
○ Digit span
○ Auditory comprehension
● Other areas affected:
○ Attention focusing
○ Emotional interaction
● Deletions localized in specific part of dystrophin gene are preferentially associated with
cognitive impairment
● Behavioral issues, such as ADHD or ASD, are also increased in boys with DMD.
 Nutrition
● Patients may be at risk for: under/malnutrition or obesity
● Immobility and weak abdominal muscles can lead to severe constipation, so the diet should
be high in fluid and fiber.
● For boys who use power wheelchairs, take prednisone or who aren’t very active, excessive
weight gain can become a problem. Monitor caloric intake, as obesity puts greater stress on
already weakened skeletal muscles and the heart.
● In later stages, pharyngeal weakness leads to dysphagia, resulting in severe weight loss
and possibly tube feeding.
Cardiac Function

● Cardiac manifestations: Cardiomyopathy & cardiac arrhythmias

● Lack of dystrophin can weaken the muscle layer in the heart (myocardium), resulting in a
condition called cardiomyopathy.
● Progression of cardiomyopathy may be slowed by certain drugs
 Respiratory Function
● Common respiratory problems:

○ Ineffective cough, nocturnal hypoventilation, sleep disordered breathing, daytime respiratory

failure

● Beginning at about 10 years of age, the diaphragm and other muscles that operate the lungs may
weaken, making the lungs less effective at moving air in and out.

● Although the child may not complain of shortness of breath, problems that indicate poor respiratory
function include:

○ Headaches, mental dullness, difficulty concentrating or staying awake, and nightmares.

● Weakened respiratory muscles make it difficult to cough, leading to increased risk of serious
Psychosocial
Difficulties in social functioning may be due to
a. Specific cognitive skills (social reciprocity, social judgment, perspective taking, and affective
discrimination)
b. Physical limitations leading to social isolation, social withdrawal, and reduced access to social
activities
c. Speech and language deficits (short term verbal memory, phonological processing, cognitive
delays-specific learning disorders and impaired intelligence)
d. Increased risk for ASD, ADHD, and OCD
e. Problems may be encountered with emotional adjustment and depression
f. Anxiety may be exacerbated by mental flexibility and adaptability
g. Decreased emotional regulation resulting in oppositional/argumentative behavior and
explosive temper problems
 Psychosocial Management
Assessments
● Coping
● Neurocognitive
● Speech and language
● Autism
● Social work

Interventions
● Counseling
● Pharmacological
● Social
● Educational
● Supportive care
 Psychosocial Management: Research

● Research published in the Journal of Developmental and Behavioral Pediatrics, found that nearly
half (45%) of the oldest males in each family affected with DMD had at least one of three mental
health concerns: behavior concerns, depressed mood, or attention-deficit/hyperactivity disorder
(ADHD).

Recent Study by the CDC:

● Males 1-29 years of age with DBMD who used steroids were more than twice as likely to have
behavioral concerns as those who did not use steroids.
● Males 1-29 years of age with DBMD who were losing their ability to walk were more likely to
have behavioral concerns, and more than three times as likely to have depressed mood as
those who were still able to walk independently.
● Males 1-29 years of age with DBMD who used steroids were not more likely to have ADHD.
● Males 1-29 years of age with DBMD who were losing their ability to walk were not more likely
to have ADHD.
Community Resources

Muscular Dystrophy Family

Association

facebook.com/MDANational

MDA Muscle Walk of Cape Girardeau

twitter.com/MDAnews
 References
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77-93

Bushby, K., Finkel, R., Birnkrant, D., Case, L., Clemens, P.R., Cripe, L.,...Constantin, C. (2009). The diagnosis and management of
Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. The Lancelot Neurology, 9, 177-189

Cook, T. L. Navigating school. (2017). Retrieved from https://www.cureduchenne.org/care/navigating-school/

Duchenne muscular dystrophy (DMD). (2017). Retrieved from https://www.mda.org/disease/duchenne-muscular-dystrophy

Learning About Duchenne Muscular Dystrophy. (n.d.). Retrieved December 12, 2017, from
https://www.genome.gov/19518854/learning-about-duchenne-muscular-dystrophy/

Muscular Dystrophy. (2016, April 07). Retrieved from https://www.cdc.gov/ncbddd/musculardystrophy/facts.html

Stone, K., Tester, C., Howarth, A., Johnston, R., Traynor, N., McAndrew, H.,...McCutcheon, M. (2007). Occupational therapy and
duchenne muscular dystrophy. West Sussex, England: John Wiley & Sons Ltd.

Romitti, P., Puzhankara, S., Mathews, K., Zamba, G., Cunniff, C., Andrew, J.,...Costa, P. (2009). Prevalence of Duchenne/Becker
muscular dystrophy among males aged 5-24 years – four states, 2007. MMWR, 58, 1119-1122