MUSCULAR

DYSTROPHY

Dr. Angelo Smith M.D

WHPL
•Causes
• Inheritance
• Dominant genes
• Recessive gene
Depends on the age when symptoms appear,
and the types of symptoms that develop.
•Risk
• Because these are inherited disorders, risk
include a family history of muscular dystrophy
How Many People Are Affected
It is estimated that between 50,000 -250,000
are affected annually. 1 per 3500 live male
births
• Muscular dystrophy is a heterogeneous
group of inherited disorders
recognized by progressive degenerative
muscle weakness and loss of muscle
tissue (started in childhood).
• Affect muscles strength and action.
• Generalized or localized.
• Skeletal muscle and other organs may
involve

• Limitation: Difficulties with walking or Maintaining posture,

Muscle spasms. Neurological, Behavioral, Cardiac, or other
Functional limitations.
Classification
•Sex-linked: DMD, BMD, ED
MD
•Autosomal recessive: LGM
D, infantile FSHD
•Autosomal dominant: FSH
D, distalMD, ocular MD, ocu
lopharyngeal MD.
Duchenne Muscular Dystr
ophy

Guillaume Benjamin Amand Duchenne

(French neurologist, 1860s)
•Etiology
▫single gene def
ect
▫Xp21.2 region
▫absent dystrop
hin
• Most common
• male, Turner
syndrome
• 1:3500 live m
ale birth
• 1/3 new muta
tion
• 65% family hi
story
Clinical manifestation
• Onset : age 3-6 ye
ars
• Progressive weak
ness
• Pseudohypertroph
y of calf muscles
• Spinal deformity
• Cardiopulmonary i
nvolvement
• Mild - moderate M
R
Natural history

• Progress slowly and

continuously
• muscle weakness
▫ lower --> upper ex
tremities
• unable to ambulate:
10 year (7-12)
• death from pulmonar
y/ cardiac failure: 2-3
rd decade
Pseudohypertrhophy of calf muscle, Tip toe gait
forward tilt of pelvis, compensatory lordosis
 Disappearance of
lordosis while sitting
DMD: Diagnosis
• Gait
• Absent DTR
• Increase CPK (200x)
• Ober test • Myopathic change in
• Thomas test EMG
• Meyeron sign - child Bx: m. degeneration
slips through truncal • Immunoblotting: Abs
grasp ence dystrophin
• Macroglossia • DNA mutation analys
• Myocardial deterioration is
• IQ ~ 80
Becker Muscular Dystrop
hy

Peter Emil Becker

(German doctor, 1950s)
• Milder version of
DMD
• Etiology
▫single gene defect
▫short arm X chrom
osome
▫altered size & decr
eased amount of d
ystrophin
Clinical features
• Less common
▫ 1: 30000 live male birth
• Less severe
• Family history: atypical MD
• Similar & less severe than DMD
• Onset: age > 7 years
• Pseudohypertrophy of calf
• Equinous and varus foot
• High rate of scoliosis
• Less frequent cardiac involvement
Diagnosis
• The same as DMD
• Increase CPK (<200x)
• Decrease dystrophin and/or altered size
Natural history
▫ Slower progression
▫ ambulate until adolescence
▫ longer life expectancy
Treatment
▫ the same as in DMD
▫ forefoot equinous: plantar release, midfoot dorsal-we
dge osteotomy
Emery-Dreifuss Muscular Dys
trophy
• Etiology
▫ X-linked recessive
▫ Xq28
▫ Emerin protein (in
nuclear membrane)
• Epidemiology
▫ Male: typical phenotype
▫ Female carrier: partial
• Clinical Features
▫ Muscle weakness
▫ Contracture
 Neck extension,
elbow, achillis tendon
Scoliosis: common, low incidence of
progression
Bradycardia, 1st degree AV block 
sudden death
 • Natural history
▫1st 10 y: mild
weakness
▫Later: contracture,
cardiac abnormality
•Diagnosis ▫5th-6th decade: can
▫Gower’s sign ambulate
▫Poor prognosis in
▫Mildly/moderately obesity, untreated
elevated CPK equinus
▫EMG: myopathic contractures.
▫Normal dystrophin
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 > 40 degrees
• Cardiologic intervention
▫ Cardiac pacemaker
Limb - Girdle Muscular Dystro
phy
•Etiology
▫Autosomal recessive at chromosome
15q
▫Autosomal dominant at 5q
•Epidemiology
▫Common
▫More benign
•Clinical
manifestation
▫Age of onset: 3rd
decade
▫Initial:
pelvic/shoulder m.
(proximal to distal)
▫Similar distribution
as DMD
Hemiatroph
y
•Classification
▫Pelvic girdle type
 common
▫Scapulohumeral
type
 rare
• Diagnosis
▫ Same clinical as
DMD/BMD carriers
▫ Moderately elevated
CPK
▫ Normal dystrophin
•Natural history
▫Slow progression
▫After onset > 20 y:
contracture &
disability
▫Rarely significant
scoliosis

•Treatment
▫Similar to DMD
▫Scoliosis: mild, no Rx.
 Fascioscapulohumeral Muscular
Dystrophy
• Etiology • Clinical
▫Autosomal dominant manifestation
▫ Age of onset: late
▫Gene defect (FRG1)
childhood/ early adult
▫Chromosome 4q35 ▫ No cardiac, CNS
• Epidemiology involvement
▫Female > male ▫ Winging scapula
▫ Markedly decreased
shoulder flexion &
abduction
▫ Horizontal clavicles
▫ Rare scoliosis
•Muscle weakness
▫face, shoulder, upper arm

•Sparing
▫Deltoid
▫Distal pectoralis major
▫Erector spinae
• “Popeye”
appearance
▫ Lack of facial mobility
▫ Incomplete eye
closure
▫ Pouting lips
▫ Transverse smile
▫ Absence of eye and
forehead wrinkles

POPEYE ARMS
•Diagnosis
▫PE, muscle biopsy
▫Normal serum CPK
•Natural history •Treatment
▫Slow progression ▫Posterior
▫Face, shoulder m. scpulocostal
 pelvic girdle, fusion/ stabilization
tibialis ant (scapuloplexy)
▫Good life
expectancy
Distal Muscular Dystrophy

• Autosomal dominant trait

• Rare
• Dysferlin (mb prot) defect
• Age of onset: after 45 yrs
• Initial involvement:
intrinsic hands, claves,
tibialis posterior
• Spread proximally
• Normal sensation
Congenital Muscular
Dystrophy
• Etiology
▫ Autosomal recessive
▫ Integrin, fugutin defect
• Epidemiology
▫ Rare
▫ Both male and female
• Classification
▫ Merosin-negative
▫ Merosin-positive
▫ Neuronal migration
 Fukuyama
 Muscle eye-brain
 Wlaker-Warburg
Clinical manifestation

• Stiffness of joint
• Congenital hip
dislocation,
subluxation
• Achillis tendon
contracture,
talipes
equinovarus
• Scoliosis
Diagnosis
Muscle Bx: Perimysial and endomysial fibrosis
Treatment
Physical therapy
Orthosis
Soft tissue release
Osteotomy
Oculopharyngeal Muscular
Dystrophy
• Autosomal dominant
• Age of onset: 3rd decade
• Ptosis in middle life
• Pharyngeal involvement
▫ Dysarthria
▫ Dysphasia
▫ Repetitive regurgitation
▫ Frequently choking
Myotonic Muscular
Dystrophy

HATCHET FACIES
`Classical form' of the disease is seen in
adolescent or early adult life with variable
presenting features.
• Muscular weakness,
•myotonia,
•mental retardation,
•cataract,
•neonatal problems
•18% remain asymptomatic.
 Summary
Clinical DMD LGMD FSMD DD CMD

Incidence common less Not Rare Rare

common

Age of 3-6 y 2nd decade 2nd decade 20-77 y At/ after

onset birth

Sex Male Either sex M=F Either sex Both

Inheritance Sex-linked AR, rare AD AD Unknown

recessive AD

Muscle Proximal to Proximal to Face & Distal Generalized

involve. distal distal shoulder to
pelvic

Muscle Leg, hand, Upper ex, Back ext, Proximal -

spread arm, face, calf hip abd,
until late larynx,eye quad
 Clinical DMD LGMD FSMD DD CMD
Pseudo 80% < 33% Rare no No
hypertrophy calf

Contracture Common Late Mild, late Mild, late Severe

Scoliosis Common, Late - - ?

Kyphoscoliosis late

Heart Hypertrophy Very rare Very rare Very rare Not

tachycardia observed

Intellectual decrease Normal Normal Normal ?

Course Stead, rapid Slow Insidious benign Steady

Treatment
is generally aimed at
controlling the onset of
symptoms to maximize the
quality of life.