Duchenne Muscular Dystrophy

Introduction
 DMD affects mostly males at a rate
of 1 in 3,500 births.
 There are over 200 types of
mutations that can cause any one of
the forms of muscular dystrophy.
 Diagnosis in boys usually occurs
between 16 months and 8 years.
 Death from DMD usually occurs
by age of 30.
 Clinical Features
Genotype of DMD
 Females carry the DMD gene on the X
chromosome.
 The DMD gene is located on the Xp 21
band of the X chromosome.
 Mutations which affect the DMD gene.
 96% are frameshift mutations
 30% are new mutations
 10-20% of new mutations occur
in the gametocyte
 The most common mutation are repeats
of the CAG nucleotides.
 Clinical Features
 Delays in early childhood stages involving muscle use, in 42%
of patients.

 standing alone
 sitting without aid
 walking (12 to 24 months)
 Toe walking or flat footednees.
 Child has a hard time climbing.

 Learning difficulties in 5% of patients.

 Speech problems in 3% of patient

 Leg and calf pain.

 Clinical Features

 Mental development is impaired. IQ’s usually below 75 points.

 Memory problems
 Carrying out daily functions
 Increase in bone fractures
 Increase in serum CK (creatine phosphokinase) levels up to 10
times normal amounts.
 Wheelchair bound by 12 years of age.
 Cardiomyopathy at 14 to 18 years.
 Few patients live beyond 30 years of age.
 Reparatory problems and cardiomyopathy leading
to congestive heart failure are the usual cause of
death.
 DMD Gene and Dystrophin
Function
 The DMD gene encodes for the protein
dystrophin, found in muscle cells and some
neurons.
3D Images of The Actin Binding Sight
Of Dystrophin
 Case Presentation
A 5 year old male is brought to your office because his mother noted that he has difficulty with activities that
other children in his Kindergarten class can do well.
 Sat up at 10 months, began to walk at 18 months
 Now cannot stand or hop on one foot
 Runs awkwardly, fatigues easily, difficulty walking up stairs
 Behind in learning the alphabet, colors and numbers
 Term SVD, no complications
 No FHx of neurologic disease
 PE: normal except for
 Musculoskeletal:
 Mild lordosis
 Bilateral heel cord tightness
 Mildly enlarged calves
 Neuro:
 Mild diffuse hypotonia
 Trouble lifting neck from table; BLE > BUE weakness
 DTRs 1+ diffusely
Differential? Diagnosis?
 Duchenne Muscular Dystrophy
 X-linked recessive, 1:3300 males
 Xp21, dystrophin gene mutation (2/3 familial, 1/3 new mutations)
 Typically presents at 5 years old
 difficulty running
 abnormal gait (waddling)
 historic motor delay
 PE
 Musculoskeletal
 lumbar lordosis
 calf pseudohypertrophy (muscle fibers replaced with fat
and connective tissue
 Neurologic
 Neck flexor weakness
 Symmetric and proximal UE and LE weakness, LE > UE
 Diffuse hypotonia, DTRs 1+ diffusely
 DMD, continued
 Other system involvement
 Dystrophin is found in skeletal muscle, smooth muscle, cardiac muscle and brain
 May have cognitive impairment
 All develop cardiomyopathy
 May develop intestinal pseudo-obstruction
 Gower Sign
 Diagnosis
 CK elevated (10x upper limit normal)
 Muscle biopsy (absent dystrophin)
 Genetic/DNA testing
 +/- EMG/NCV
 Prognosis
 Supportive care
 +/- steroids
 Wheelchair bound by 13 years old
 Death in 20s from respiratory or cardiac failure
 Duchenne Muscular
Dystrophy:
Rehabilitation Management
 Introduction
 Different types of rehabilitation needed through life
 Delivered mainly by physiotherapists and
occupational therapists, but others may be involved
 Rehabiliation specialists
 Orthotists
 Providers of wheelchairs/other seating
 (Potentially) orthopaedic surgeons
 Contractures
• Factors contributing towards tendency towards
contractures:
– Muscles becoming less elastic due to limited
use/positioning
– Muscles out of balance around the joint
• Maintaining good range of movement and
symmetry is important
– Maintains best possible function
– Prevents development of fixed deformities
– Prevents pressure problems with the skin
 Management of muscle extensibility
and joint contractures
• Physiotherapist: key contact for contracture
management
• Ideally input from local PT supported by a
specialist PT every 4 months
• Stretching should be performed at least 4-6
times a week as part of family’s daily routine
• Effective stretching may require a range of
techniques including stretching, splinting, and
standing devices
 Stretches
• Regular ankle, knee and hip stretching is
important
• Later, regular stretching at the arms becomes
necessary – especially fingers, wrist, elbow and
shoulder
• Standing programes (in a standing frame, or
power chair with stander) are recommended after
walking becomes impossible
• Resting hand splints are appropriate for
individuals with tight long-finger flexors
 Splints
 Night splints (ankle-foot orthoses/AFOs) can help
control ankle contractures
 Should be custom-made, not “off the shelf”
 After loss of ambulation, daytime splints may be
preferred
 Daytime splints not recommended for ambulant boys
 Long-leg splints (knee-ankle-foot-orthoses) may
be useful at stage when walking is becoming very
difficult or impossible
 Can help control joint tightness, prolong ambulation,
and delay the onset of scoliosis
 Wheelchairs, seating and assistive
equipment
 Early ambulatory phase
 Scooter, stroller, or wheelchair may be used for
long distances to conserve strength
 Posture is important: customisation of chair
normally necessary
 With increased difficulty walking, provision of
powered wheelchair is recommended
 This should be adapted/customised for comfort,
posture and symmetry
 Wheelchairs, seating and assistive
equipment (2)
 Arm strength becomes an issue over time
 PTs/OTs can recommend assistive devices to
maintain independence (e.g. alternative
computer/environmental control access)
 Proactive consideration of equipment allows
timely provision
 Additional adaptations in late ambulatory and
non-ambulatory stages may be needed to help
with getting upstairs, transferring,
eating/drinking, turning in bed, and bathing
 Recommendations for exercise
• Limited research
• High-resistance strength training and eccentric
exercise are inappropriate across the lifespan
– Concerns about contraction-induced muscle-fibre
injury
• submaximal (gentle) functional
strengthening/activity, including a combination
of swimming-pool exercises and recreation-
based exercises in the community
 Recommendations for exercise (2)
 Swimming may benefit aerobic conditioning and
respiratory exercise: highly recommended from
early ambulatory to early non-ambulatory phases
(can be continued as long as medically safe)
 Additional benefits may be provided by low-
resistance strength training and optimisation of
upper body function
 Significant muscle pain or myoclobinuria in 24h
period after a specific activity is a sign of
overexertion and contraction-induced injury. If
this occurs, the activity should be modified
 Surgery: Early Ambulatory Phase
 Procedures for early contractures include
 Heel-cord (tendo-Achilles) lengthening for equinus contractures
 Hamstring tendon lengthening for knee-flexion contractures
 Anterior hip-muscle releases for hip-flexion contractures
Surgery: Middle Ambulatory Phase (2)
• The surgeries involve tendon-lengthing,
tendon transfer, tenotomy (cutting the tendon)
along with release of fibrotic joint contractures
(ankle) or removal of tight fibrous bands
(iliotibial band at lateral thigh from hip to
knee)
Surgery: Middle Ambulatory Phase (3)
 Single-level surgery (e.g. correction of ankle equinus deformity
>20°) not indicated if there are knee flexion contractures of 10° or
greater and quadriceps strength of grade 3/5 or less
 Equinus foot deformity (toe-walking) and varus foot deformities
(severe inversion) can be corrected by heel-cord lengthening and
tibialis posterior tendon transfer through the interosseous membrane
onto the dorsolateral aspect of the foot to change plantar flexion-
inversion activity of the tibialis posterior to dorsiflexion-eversion.
 Hamstring lengthening behind knee generally needed if knee-flexion
contracture of more than 15°
 After tendon lengthening and tendon transfer, post-operative bracing
may be needed, which should be discussed pre-operatively.
 Following tenotomy, bracing is always needed.
Surgery: Middle Ambulatory Phase
 When surgery performed to maintain walking,
patient must be mobilised using a walker or
crutches on the first or second postoperative day
to prevent further disuse atrophy of lower-
extremity muscles.
 Post-surgery walking must continue throughout
limb immobilisation and post-cast rehabilitation.
 An experienced team with close coordination
between the orthopaedic surgeon, physical
therapist, and orthotist is required.
Surgery: Late ambulatory & early non-
ambulatory phases
 Late ambulatory
 Generally ineffective
 Obscures benefits of more timely interventions
 Surgery: Late non-ambulatory phase
 Severe equinus foot deformities (>30°) can be
corrected with heel-cord lengthening or tenotomy
 Varus deformities (if present) can be corrected with
tibialis posterior tendon transfer, lengthening, or
tenotomy.
 This is done for specific symptomatic problems
 Generally to alleviate pain/pressure
 Allow the patient to wear shoes
 Correctly place the feet on wheelchair footrests.
 This approach is not recommended as routine
 Pain Management
 Appropriately managed
 Cardiac/Respiratory care
 The risk of cardiac arrhythmia is increased
with disease progression, and surveillance in
late nonambulatory stage should include
periodic 24-hour Holter monitoring as directed
by the cardiologist.
 Mental health
 Patients with DMD appear to have increased rates of
intellectual disability, learning disorders, autism spectrum
disorder, and attention deficit hyperactivity disorder.
 In addition, patients and their family members have an
increased risk of anxiety and depression.
 Patients should have neuropsychologic evaluations and
interventions when developmental, emotional, or behavioral
problems arise.
 Educational and vocational
support —
 Educational support, accommodations, and
special services should be incorporated into a
formal educational plan, updated annually,
according to individual needs .
 Planning for vocational training and adult
roles should begin early account for individual
circumstances such as intellectual disability,
physical challenges, and availability of social,
community, and government resources.
 Palliative care
 In the nonambulatory phase, caregivers and
families should be assisted with arranging
respite care and home health care services as
needed. Hospice care should be offered for
patients at the end of life
THANK YOU