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Approach to myopathy

• Hereditary & Acquired

• Hereditary Myopathy Classification

• 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 Cardiomyopathy


girdle muscles. Mental impairment
2.unable to walk after age
12
3.progressive
kyphoscoliosis
4.Respiratory failure in
2dor 3d decade.
Becker early childhood to 1.Progressive weakness of Cardiomyopathy
5-25yr adult girdle muscles
2. able to walk after
age 15.
1.3. respiratory failure may
develop by 4th grade
Emery-Dreifuss Childhood to adult Elbow contractures, Cardiomyopathy
humeral and perineal
weakness
Limb-Girdle early childhood to Slow progressive weakness Cardiomyopathy
adult of shoulder and hip girdle
muscles
Progressive Muscular Dystrophy
Type Onset Age (years) Clinical Features Other organ systems involved

Congenital At birth or within 1st .Hypotonia, contractures, CNS and


few months delayed milestones Eye abnormalities
Progression to respiratory
failure in some;

Facioscapulohumeral Before age 20 Slowly progressive weakness Deafness


of face, shoulder girdle, and Coat’s (eye) disease
foot dorsiflexion

Oculopharyngeal 5th to 6th decade Slowly progressive weakness ______


of extraocular, pharyngeal,
and limb muscles

Myotonic Usually 2nd decade Slowly progressive weakness Cardiac conduction defects
May be infancy if of face, shoulder girdle, and Mental impairment
mother affected foot dorsiflexion Cataracts
Frontal baldness
Gonadal atrophy
Duchenne MD
• 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

 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
• 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 • Natural history


– Gower’s sign – 1st 10 y: mild weakness
– Mildly/moderately – Later: contracture,
elevated CPK cardiac abnormality
– EMG: myopathic – 5th-6th decade: can
– Normal dystrophin 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
• Epidemiology Female > male
• Clinical manifestation
– Age of onset: late childhood/ early adult - No cardiac, CNS involvement
Clinical manifestation
– 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
 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
• Are distinguished from dystrophy in three respect:
• Characteristic morphologic alteration
• At birth
• Non progressive

• 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)

• Absent or reduced muscle stretch reflex

• Weakness: limb girdle mostly, but distal weakness exist


Muscular Dystrophy:
Rehabilitation Management
Respiratory Management
 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
 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
 Prolong independent ambulation
 Maximize functional ability
 Prevent complications of inactivity
 Improve emotional well-being

Physical Therapy Interventions


 Stretching/Positioning
 Management of contractures
 Assistive devices
 Exercise
 Objective measures and testing to monitor progression
Objective measures

 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

 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
• Heelcords: Gastrocnemius/
• Combination of Achilles Tendon lengthening
AROM, AAROM, into dorsiflexion
PROM, prolonged • Tensor Fascia Latae/Iliotibial
Band: stretch hip into
elongation (splinting, adduction, internal rotation,
and extension.
positioning)
• Other muscles throughout the
• Minimum of 4-6 days hips, knees and ankles
per week, at • In non-ambulatory phase, also
focus on upper extremities:
home/school and in finger flexors, wrist flexors,
elbow and shoulder joints
the clinic
Active assisted stretches
Self stretches

Ilio-tibial band (ITB)


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 • Standing Frames: A few
appropriate postural hours per day, even with
positioning to prevent minimal weight bearing,
scoliosis and back to prevent and reduce the
pain/aches severity of contractures,
– Powered for more involved decubitis ulcers, and
patients. scoliosis.
– Manual Lightweight for less • Also improves bone
involved patients so can
self propel and increase mineral density,
independence, as well as circulation, and GI and
provide arm exercise respiratory functions.
Recommended Exercise
for DMD
• Low resistive and aerobic • Long term, low-intensity,
exercise are justified to: preferably no load (or
– Prevent deconditioning, low-load) weight-bearing
decreased fitness, disuse
atrophy and joint activity to reduce
contractures mechanical stress on the
– Counteract secondary muscle
complications of inactivity
– Increased Type I fibers,
such as obesity, Diabetes,
osteoporosis and which are less vulnerable
cardiovascular diseases to degeneration
– Will not promote
hypertrophy
Recommended Exercise
for DMD, Con’t
• Use caution to ensure • Aquatic Therapy!
that cardiovascular or Excellent for improving/
muscular complications maintaining mobility,
do not develop strength, flexibility, and
• High-resistance and aerobic conditioning and
eccentric exercise is NOT cardiopulmonary fitness
recommended, although
it has not actually been
proven harmful for a DMD
patient