1. بسم الله الرحمن الرحيم

2. Approach to myopathy Hereditary & Acquired
Hereditary Myopathy Classification
Dystrophy
Congenital myopathy
Channelopathies & myotonia
Metabolic (fatty acid/glycogensis/mitochondrial)

3. Muscular dystrophy
Inherited myopathy characterized by progressive muscles weakness &degeneration &subsequent replacement by fibrous & fatty connective tissue .

4. 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

5. Classification of Muscular Dystrophy
Sex-linked: DMD, BMD, EDMD Autosomal recessive: LGMD, infantile FSHD Autosomal dominant: FSHD, distalMD, ocular MD, oculopharyngeal MD.

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

7. 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
______
Myotonic
Usually 2nd decade
May be infancy if mother affected
Cardiac conduction defects
Mental impairment
Cataracts
Frontal baldness
Gonadal atrophy

8. 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

9. DMD: Clinical manifestation
Onset : age 3-6 years
Progressive weakness
Pseudohypertrophy of calf muscles
Spinal deformity
Cardiopulmonary involvement
Mild - moderate MR

10. DMD: Diagnosis
Gower’s sign

11. 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

12. 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

13. Emery-dreifuss X linked onset :childhood
Triad of: early contracture elbow, ankle &posterior cervical
2-progressive scapulohumroperoneal
3-cardiomyopathy with atrial conduction defect

14. EDMD Natural history Diagnosis 1st 10 y: mild weakness Gower’s sign
Later: contracture, cardiac abnormality
5th-6th decade: can ambulate
Poor prognosis in obesity, untreated equinus contractures.
Diagnosis
Gower’s sign
Mildly/moderately elevated CPK
EMG: myopathic
Normal dystrophin

15. Limb girdle dystrophy Classification Clinical manifestation
AR majority
Onset: adolescence or late
Clinical manifestation
Slow progression, contracture & disability
Rarely significant scoliosis
Classification
Pelvic girdle type
common
Scapulohumeral type
rare

16. Fascioscapulohumeral muscular dystrophy
Autosomal dominant
Epidemiology Female > male
Clinical manifestation
Age of onset: late childhood/ early adult - No cardiac, CNS involvement
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

17. FSMD: Clinical manifestation
Winging scapula
Markedly decreased shoulder flexion & abduction
Horizontal clavicles
forward sloping
Rare scoliosis

18. 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…

19. 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)

20. 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

21. 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

22. Muscular Dystrophy: Rehabilitation Management

23. 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

24. 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

25. 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

26. 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)

27. 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
Positioning at night/ daily
TFL stretch_ to oppose positional seating in W/C

28. Active assisted stretches
Self stretches
Ilio-tibial band (ITB)

29. 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

30. 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.
Tilting wheelchairs into a standing position also
Wheelchairs: important to include reclining backrest, raisable leg rests, appropriate padding

31. 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

32. 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
Limited research on frequency, intensity, and type of ex

33. thanks