Title: Muscular Dystrophies Patarawan Woratanarat, MD, PhD Department of Orthopaedics Faculty of Medicine Ramathibodi Hospital
1Muscular DystrophiesPatarawan Woratanarat, MD,
PhDDepartment of OrthopaedicsFaculty of
Medicine Ramathibodi Hospital
2A 7-year-old boy presents with progressive
weakness of both legs for 4 years.
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6Definition
- A group of noninflammation inherited distroders
- progressive degeneration and weakness of skeletal
muscles - without cause in peripheral / central nervous
system
7Classification
- Sex-linked DMD, BMD, EDMD
- Autosomal recessive LGMD, infantile FSHD
- Autosomal dominant FSHD, distalMD, ocular MD,
oculopharyngeal MD.
8Duchenne Muscular dystrophy
- Guillaume Benjamin Amand Duchenne
- (French neurologist, 1860s)
9Duchenne Muscular dystrophy
- Etiology
- single gene defect
- Xp21.2 region
- absent dystrophin
10Duchenne Muscular dystrophy
11Duchenne Muscular dystrophy
12DMD pathology
13DMD Epidemiology
- Most common
- male, Turner syndrome
- 13500 live male birth
- 1/3 new mutation
- 65 family history
14DMD Clinical manifestation
- Onset age 3-6 years
- Progressive weakness
- Pseudohypertrophy of calf muscles
- Spinal deformity
- Cardiopulmonary involvement
- Mild - moderate MR
15Pseudohypertrhophy of calf muscle, Tip toe
gait forward tilt of pelvis, compensatory lordosis
16Disappearance of lordosis while sitting
17DMD Diagnosis
Gowers sign
18DMD Diagnosis
- Increase CPK (200x)
- Myopathic change in EMGBx m. degeneration
- Immunoblotting Absence dystrophin
- DNA mutation analysis
- Gait
- absent DTR
- Ober test
- Thomas test
- Meyeron sign
- Macroglossia
- Myocardial deterioration
- IQ 80
19Western blot Normal dystrophin bands (230kD)
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21DMD Natural history
- Progress slowly and continuously
- muscle weakness
- lower --gt upper extremities
- unable to ambulate 10 year (7-12)
- death from pulmonary/ cardiac failure 2-3rd
decade
22DMD Treatment
- Prednisolone
- Dystrophin replacement
- Maintain function
- PMR
- orthosis
- cardiopulmonary Rx
- Counselling
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24DMD Treatment
- Surgery
- Foot ankle Achillis, Tibialis posterior
release - Knee Yount, hamstring release
- Hip Ober, modified Soutter procedure
25DMD Treatment
Percut. Tenotomy Achillis tendon
An 8-yr-old boy Unable to stand
Ambulate with orthosis
26DMD Treatment
- Surgery
- Upper extremity -
- Spinal deformity posterior spinal fusion
pelvis
27Becker muscular dystrophy
- Peter Emil Becker
- (German doctor, 1950s)
28Becker muscular dystrophy
- Milder version of DMD
- Etiology
- single gene defect
- short arm X chromosome
- altered size decreased amount of dystrophin
29Becker muscular dystrophy
30BMD Epidemiology
- Less common
- 1 30000 live male birth
- Less severe
- Family history atypical MD
31BMD Clinical manifestation
- Similar less severe than DMD
- Onset age gt 7 years
- Pseudohypertrophy of calf
- Equinous and varus foot
- High rate of scoliosis
- Less frequent cardiac involvement
32BMD Diagnosis
- The same as DMD
- Increase CPK (lt200x)
- Decrease dystrophin and/or altered size
33BMD
- Natural history
- Slower progression
- ambulate until adolescence
- longer life expectancy
- Treatment
- the same as in DMD
- forefoot equinous plantar release, midfoot
dorsal-wedge osteotomy
34Emery-Dreifuss muscular dystrophy
- Etiology
- X-linked recessive
- Xq28
- Emerin protein (in neuclear membrane)
- Epidemiology
- Male typical phenotype
- Female carrier partial
35EDMD Clinical manifestation
- Muscle weakness
- Contracture
- Neck extension, elbow, achillis tendon
36EDMD Clinical manifestation
- Scoliosis common, low incidence of progression
- Bradycardia, 1st degree AV block ? sudden death
37EDMD
- Natural history
- 1st 10 y mild weakness
- Later contracture, cardiac abnormality
- 5th-6th decade can ambulate
- Poor prognosis in obesity, untreated equinus
contractures.
- Diagnosis
- Gowers sign
- Mildly/moderately elevated CPK
- EMG myopathic
- Normal dystrophin
38EDMD Treatment
- Physical therapy
- Prevent contracture neck, elbow, paravertebral
muscles - For slow progress elbow flexion contracture
- Soft tissue contracture
- Achillis lengthening, posterior ankle capsulotomy
anterior transfer of tibialis posterior - Spinal stabilization
- For curve gt 40 degrees
- Cardiologic intervention
- Cardiac pacemaker
39Limb-girdle muscular dystrophy
- Eitology
- Autosomal recessive at chromosome 15q
- Autosomal dominant at 5q
- Epidemiology
- Common
- More benign
40Limb-girdle muscular dystrophy
an absence of functional sarcoglycans components
of the dystrophin glycoprotein complex (DCG).
Other LGMD result from the absence of
functional caveolin-3
41Limb-girdle muscular dystrophy
- Clinical manifestation
- Age of onset 3rd decade
- Initial pelvic/shoulder m. (proximal to distal)
- Similar distribution as DMD
42LGMD
- Diagnosis
- Same clinical as DMD/BMD carriers
- Moderately elevated CPK
- Normal dystrophin
- Classification
- Pelvic girdle type
- common
- Scapulohumeral type
- rare
43LGMD
- Treatment
- Similar to DMD
- Scoliosis mild, no Rx.
- Natural history
- Slow progression
- After onset gt 20 y contracture disability
- Rarely significant scoliosis
44Fascioscapulohumeral muscular dystrophy
- Etilogy
- Autosomal dominant
- Gene defect (FRG1)
- Chromosome 4q35
- Epidemiology
- Female gt male
- Clinical manifestation
- Age of onset late childhood/ early adult
- No cardiac, CNS involvement
45FSMD Clinical manifestation
- Muscle weakness
- face, shoulder, upper arm
- Sparing
- Deltoid
- Distal pectoralis major
- Erector spinae
46- Popeye appearance
- Lack of facial mobility
- Incomplete eye closure
- Pouting lips
- Transverse smile
- Absence of eye and forehead wrinkles
47FSMD Clinical manifestation
- Winging scapula
- Markedly decreased shoulder flexion abduction
- Horizontal clavicles
- forward sloping
- Rare scoliosis
48FSMD
- Treatment
- Posterior scpulocostal fusion/ stabilization
(scapuloplexy)
- Diagnosis
- PE, muscle biopsy
- Normal serum CPK
- Natural history
- Slow progression
- Face, shoulder m. ? pelvic girdle, tibialis ant
- Good life expectancy
49Distal muscular dystrophy
- Autosomal dominant trait
- Rare
- Dysferlin (mb prot) defect
- Age of onset after 45 y
50Distal muscular dystrophy
- Initial involvement intrinsic hands, claves,
tibialis posterior - Spread proximally
- Normal sensation
51DD Classification
- Welander distal myopathy
- Finnish/Markesbery distal myopathy
- Miyoshi distal myopathy
- Nonaka distal myopathy
- Gower autosomal dominant, Chromosome 14
- Hereditary inclusion-body myositis
- Hereditary inclusion-body myuositis
- Distal myopathy with vocal cord pharyngeal
weakness
52Congenital muscular dystrophy
- Etiology
- Autosomal recessive
- Integrin, fugutin defect
Laminin ?2 chain merosin
53CMD
- Epidemiology
- Rare
- Both male and female
- Classification
- Merosin-negative
- Merosin-positive
- Neuronal migration
- Fukuyama
- Muscle eye-brain
- Wlaker-Warburg
54CMD Clinical manifestation
- Stiffness of joint
- Congenital hip dislocation, subluxation
- Achillis tendon contracture, talipes equinovarus
- Scoliosis
55CMD
- Diagnosis
- Muscle Bx Perimysial and endomysial fibrosis
- Treatment
- Physical therapy
- Orthosis
- Soft tissue release
- Osteotomy
56Summary
57Summary
58Thank you
59Infantile fascioscapulohumeral muscular dystrophy
- Clinical manifestation
- Facial diplegia
- Sensorinueral hearing loss
- Mobius type of facial weakness
- Walk with hands and forearms folded across upper
buttocks - Marked progressive lumbar lordosis (pathog)
- Less common equinous, scoliosis
- Etiology
- Autosomal recessive
- Unidentified gene
60IFSMD
- Natural history
- Infancy facial diplegia
- Childhood sensorineural hearing loss
- 2nd decade of life wheelchair bound, severely
compromised pulmonary function
- Treatment
- Flexible equinous/equinovarus foot AFO TAL
- Hip flextion contracture no Rx in ambulate pt.
- Spinal deformity in wheelchai ambulator
orthosis post spinal fusion with instrumentation - Scapulothoracic stabilization not necessary
61Ocular muscular dystrophy
- Rare
- Age of onset adolescence
- Extraocular muscle weakness ? diplopia ? limit
ocular movement - May involve proximal upper extremities
- Slowly progressive
62Oculopharyngeal muscular dystrophy
- Autosomal dominant with complete penetrane
- Age of onset 3rd decade
- Ptosis in middle life
63OPMD
- Pharyngeal involvement
- Dysarthria
- Dysphasia
- Repetitive regurgitation
- Frequently choking