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,
EDMD
Autosomal recessive: LGMD,
infantile FSHD
Autosomal dominant: FSHD,
distalMD, ocular MD,
oculopharyngeal MD.
Duchenne Muscular Dystrophy

Guillaume Benjamin Amand Duchenne

(French neurologist, 1860s)
 Etiology
single gene defect
Xp21.2 region
absent dystrophin
 Most common
male, Turner
syndrome
1:3500 live male
birth
1/3 new mutation
65% family history
Clinical manifestation
Onset : age 3-6 years
Progressive weakness
Pseudohypertrophy of
calf muscles
Spinal deformity
Cardiopulmonary
involvement
Mild - moderate MR
Natural history

Progress slowly and

continuously
muscle weakness
lower --> upper
extremities
unable to ambulate: 10
year (7-12)
death from pulmonary/
cardiac failure: 2-3rd
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 slips Bx: m. degeneration
through truncal grasp Immunoblotting:
Macroglossia Absence dystrophin
Myocardial deterioration DNA mutation
IQ ~ 80 analysis
Becker Muscular Dystrophy

Peter Emil Becker

(German doctor, 1950s)
 Milder version of
DMD
Etiology
single gene defect
short arm X
chromosome
altered size &
decreased amount
of dystrophin
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-
wedge osteotomy
Emery-Dreifuss Muscular Dystrophy
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
Gowers sign ambulate
Mildly/moderately Poor prognosis in
elevated CPK obesity, untreated
EMG: myopathic equinus
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
Dystrophy
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
Hemiatrophy
 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
Gene defect (FRG1) Age of onset: late
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 Treatment
Natural history Posterior
Slow progression scpulocostal
Face, shoulder m. fusion/ stabilization
pelvic girdle, (scapuloplexy)
tibialis ant
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 common Rare Rare

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

Sex Male Either sex M=F Either sex Both

Inheritance Sex-linked AR, rare AD AD AD Unknown

recessive

Muscle Proximal to Proximal to Face & Distal Generalized

involve. distal distal shoulder to
pelvic

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

spread until arm, face, calf hip abd,
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 Late - - ?

Kyphoscoliosis

Heart Hypertrophyt Very rare Very rare Very rare Not

achycardia 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.