Approach to myopathy
• Hereditary &
Acquired
• Hereditary Myopathy Classification
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Dystrophy
Congenital myopathy
Channelopathies & myotonia
Metabolic (fatty acid/glycogensis/mitochondrial)
Muscular dystrophy
• Inherited myopathy characterized by
progressive muscles weakness &degeneration
&subsequent replacement by fibrous & fatty
connective tissue
• .
Muscular Dystrophy affects muscular
strength and action,
some of which first become obvious in infancy, and
others which develop in adolescence or young
adulthood.
The syndromes are marked by either generalized
or localized muscle weakness, difficulties with
walking or maintaining posture, muscle spasms,
and in some instances, neurological, behavioral,
cardiac, or other functional limitations
Classification of Muscular Dystrophy
Sex-linked: DMD, BMD, EDMD
Autosomal recessive: LGMD, infantile FSHD
Autosomal dominant: FSHD, distalMD,
ocular MD, oculopharyngeal MD.
Progressive Muscular Dystrophy
Type
Onset Age (years)
Clinical Features
Other organ systems involved
Duchenne
Before 5
1.Progressive weakness of
girdle muscles.
2.unable to walk after age
12
3.progressive
kyphoscoliosis
4.Respiratory failure in
2dor 3d decade.
Cardiomyopathy
Mental impairment
Becker
5-25yr
early childhood to
adult
1.Progressive weakness of
girdle muscles
2. able to walk after
age 15.
1.3. respiratory failure may
develop by 4th grade
Cardiomyopathy
Emery-Dreifuss
Childhood to adult
Elbow contractures,
humeral and perineal
weakness
Cardiomyopathy
Limb-Girdle
early childhood to
adult
Slow progressive weakness
of shoulder and hip girdle
muscles
Cardiomyopathy
Progressive Muscular Dystrophy
Type
Onset Age (years)
Clinical Features
Other organ systems involved
Congenital
At birth or within 1st
few months
.Hypotonia, contractures,
delayed milestones
Progression to respiratory
failure in some;
CNS and
Eye abnormalities
Facioscapulohumeral
Before age 20
Slowly progressive weakness
of face, shoulder girdle, and
foot dorsiflexion
Deafness
Coat’s (eye) disease
Oculopharyngeal
5th to 6th decade
Slowly progressive weakness
of extraocular, pharyngeal,
and limb muscles
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Myotonic
Usually 2nd decade
May be infancy if
mother affected
Slowly progressive weakness
of face, shoulder girdle, and
foot dorsiflexion
Cardiac conduction defects
Mental impairment
Cataracts
Frontal baldness
Gonadal atrophy
Duchenne MD
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Incidence: 1/3500 male birth
1/3 new mutation
c/p:as early as 2-3y with delay milestones
Progressive limb girdle pattern
Fall 5-6y/difficult climb stair 8y, confined to
wheelchair 12y
DMD: Clinical manifestation
• Onset : age 3-6 years
• Progressive weakness
• Pseudohypertrophy of
calf muscles
• Spinal deformity
• Cardiopulmonary
involvement
• Mild - moderate MR
DMD: Diagnosis
Gower’s
sign
DMD: Natural history
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Progress slowly and continuously
muscle weakness ( lower --> upper extremities, Progressive kyphscliosis
due to Paraspinal muscles weakness
unable to ambulate: 10 year (7-12)
death from pulmonary/ cardiac failure: 2-3rd decade
Beckers MD
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Is milder form
5/100,000
Age :5-15y
Wheelchair at 30y
Equinous and varus foot
High rate of scoliosis
Cardiac similar to duchenne
Death by age 40
Emery-dreifuss
• X linked
• onset :childhood
• Triad of:
1-early contracture elbow, ankle &posterior
cervical
2-progressive scapulohumroperoneal
3-cardiomyopathy with atrial conduction defect
EDMD
• Diagnosis
– Gower’s sign
– Mildly/moderately
elevated CPK
– EMG: myopathic
– Normal dystrophin
• Natural history
– 1st 10 y: mild weakness
– Later: contracture,
cardiac abnormality
– 5th-6th decade: can
ambulate
– Poor prognosis in
obesity, untreated
equinus contractures.
Limb girdle dystrophy
• AR majority
• Onset: adolescence or late
• Clinical manifestation
– Slow progression, contracture & disability
– Rarely significant scoliosis
• Classification
– Pelvic girdle type
• common
– Scapulohumeral type
• rare
Fascioscapulohumeral muscular dystrophy
Autosomal dominant
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Epidemiology
Female > male
Clinical manifestation
– Age of onset: late childhood/ early adult - No cardiac, CNS involvement
Clinical manifestation
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Muscle weakness ( face, shoulder, upper arm ) Lack of facial mobility
Incomplete eye closure
Pouting lips
Transverse smile
Absence of eye and forehead wrinkles
• Sparing
– Deltoid
– Distal pectoralis major
– Erector spinae
FSMD: Clinical manifestation
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Winging scapula
Markedly decreased shoulder
flexion & abduction
Horizontal clavicles
forward sloping
Rare scoliosis
Congenital muscular dystrophy
– Autosomal recessive
• c/p:
Hypotonia &proximal weakness, arthrogryposis, Stiffness of
joint, Congenital hip dislocation, subluxation
Achillis tendon contracture, talipes equinovarus,Scoliosis
• Two types
• CNS involvement: sever mental retardation ,visual,
seizure ..cerebrocular dysplasia, progressive death by
age 10-12
• No CNS :classic type MRI (hypomyelination), benign
outcome, non progressive
• Muscle biopsy :dystrophy…
Myotonic dystrophy
Autosomal dominant
• Affect : skeletal,cardiac, smooth muscles,
eye,endocrine &brain
• Onset :at any age ,usually at late 2nd decade
• Some individual can be symptoms free their entire life
• Sever form :congenital myotonic dystrophy
• C/P:
weakness: (facial,temporalis wasting,ptosis,neck
flexor,distal weakness progress to involve limb girdle)
oculopharengeal
Autosomal dominant
• Onset:5th &6th decade
• Ptosis &dysphagea later all extra ocular muscles
&extremities affected (limb girdle) but distal can
be significant in some variant
• Slow progressive ,death from aspiration
pneumonia or starvation
Congenital myopathy
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Are distinguished from dystrophy in three respect:
Characteristic morphologic alteration
At birth
Non progressive
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c/p:
hypotonia with subsequent developmental delay
Reduce muscles bulk, slender body build &long narrow face
Skeletal abnormalities: high arched palate ,pectus exacavitum, kyphscliosis,
dislocated hip, pes cavus)
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Absent or reduced muscle stretch reflex
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Weakness: limb girdle mostly, but distal weakness exist
Muscular Dystrophy:
Rehabilitation Management
Respiratory Management
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Patients with DMD are at increased risk of respiratory complications
Because of progressive loss of muscle strength:
– Cough may be ineffective
– Nocturnal hypoventilation
– Sleep-disordered breathing
PT can assist with respiratory management by having patient
breathe against a resistive load (water in pool), breath-holding,
bubble-blowing, to improve ventilatory strength and endurance.
Important to note signs and symptoms of hypoventilation to refer
patient to respiratory physician.
– Fatigue, dyspnea, tachycardia, morning/continuous headaches,
sleep dysfunction, nightmares, difficulty concentrating
Cardiac Management
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Cardiomyopathy and/or cardiac arrhythmia are
major sources of mortality in DMD
 The heart/myocardium have areas of
hypertrophy, atrophy, and fibrosis
 Failure to see a cardiac specialist early in the
disease process have led to late treatment and
poor outcomes
 Higher levels of fitness are associated with
better cardiac health
Goals of Physical Therapy
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Prolong independent ambulation
Maximize functional ability
Prevent complications of inactivity
Improve emotional well-being
Physical Therapy Interventions
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Stretching/Positioning
 Management of contractures
 Assistive devices
 Exercise
 Objective measures and testing to monitor progression
Objective measures
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Strength testing- MMT to monitor disease progression and predict
functional losses, assess responses to treatment and monitor
muscle imbalances
– Test Lower exermiies every 6 months when ambulatory; test UE
and LE every 6 months when non-ambulatory
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ROM: goniometry to identify hypomobility, jt contractures that may
contribute to functional deterioration or to
musculoskeletal/integumentary complications, or to note need of
splinting/orthotics.
– In ambulatory phase, measure hips, knees, ankles (ITB, H/S,
heelcords). In non-ambulatory phase, measure UE as well as
LE (elbows, wrists, finger flexors)
Stretching
• Combination of
AROM, AAROM,
PROM, prolonged
elongation (splinting,
positioning)
• Minimum of 4-6 days
per week, at
home/school and in
the clinic
• Heelcords: Gastrocnemius/
Achilles Tendon lengthening
into dorsiflexion
• Tensor Fascia Latae/Iliotibial
Band: stretch hip into
adduction, internal rotation,
and extension.
• Other muscles throughout the
hips, knees and ankles
• In non-ambulatory phase, also
focus on upper extremities:
finger flexors, wrist flexors,
elbow and shoulder joints
Self
stretches
Ilio-tibial
band (ITB)
Active
assisted stretches
Assistive Devices: AFOs
• Custom-molded and comfortable for optimum
foot and ankle alignment
• Throughout life: AFO’s are appropriate at night
to prevent or minimize the progression of
equinus contractures
• Late stages:
– KAFOs for non-ambulatory boys to prevent
contracture and deformity (not for use at night)
– Resting hand splints for finger flexors
Assistive Devices Con’t
• Wheelchair: Need
appropriate postural
positioning to prevent
scoliosis and back
pain/aches
– Powered for more involved
patients.
– Manual Lightweight for less
involved patients so can
self propel and increase
independence, as well as
provide arm exercise
• Standing Frames: A few
hours per day, even with
minimal weight bearing,
to prevent and reduce the
severity of contractures,
decubitis ulcers, and
scoliosis.
• Also improves bone
mineral density,
circulation, and GI and
respiratory functions.
Recommended Exercise
for DMD
• Low resistive and aerobic
exercise are justified to:
– Prevent deconditioning,
decreased fitness, disuse
atrophy and joint
contractures
– Counteract secondary
complications of inactivity
such as obesity, Diabetes,
osteoporosis and
cardiovascular diseases
• Long term, low-intensity,
preferably no load (or
low-load) weight-bearing
activity to reduce
mechanical stress on the
muscle
– Increased Type I fibers,
which are less vulnerable
to degeneration
– Will not promote
hypertrophy
Recommended Exercise
for DMD, Con’t
• Use caution to ensure
that cardiovascular or
muscular complications
do not develop
• High-resistance and
eccentric exercise is NOT
recommended, although
it has not actually been
proven harmful for a DMD
patient
• Aquatic Therapy!
Excellent for improving/
maintaining mobility,
strength, flexibility, and
aerobic conditioning and
cardiopulmonary fitness