MUSCULAR

DYSTROPHY
• 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
by progressive
disorders degenerative muscle
recognized
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
• 1:3500live
male
birth
• 1/3
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 de
cade
Pseudohypertrhophy of calf muscle, Tip toe gait
forward tilt of pelvis, compensatory lordosis
 Disappearance of
lordosis while sitting
DMD: Diagnosis
• Gait
•
• Increase CPK
Absent DTR
• Ober test (200x)
• Thomas test • Myopathic change in
• Meyeron sign - child EMG
slips through truncal Bx: m. degeneration
grasp • Immunoblotting:
• Macroglossia Absence dystrophin
• Myocardial deterioration
• IQ ~ 80 • DNA mutation
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-
Emery-Dreifuss Muscular Dystrophy
• Etiology
▫ X-linked recessive
▫ Xq28
▫ Emerinprotein (in nuclear
membrane)
• Epidemiology
▫ Male: typical phenotype
▫ Female carrier: partial
• Clinical Features
▫ Muscle weakness
Scoliosis: common, low incidence of
progression
Bradycardia, 1st degree AV block  sudden
death
 • Natural history
▫ 1st 10 y: mild
weakness
▫ Later: contracture,
• Diagnosis cardiac abnormality
▫ Gower’s sign ▫ 5th-6th decade: can
ambulate
▫ Mildly/moderately
elevated CPK ▫ Poor prognosis in
obesity, untreated
▫ EMG: myopathic equinus
contractures.
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
 Limb - Girdle Muscular
Dystrophy
• Etiology
▫ Autosomal recessive at chromosome
15q
▫ Autosomal dominant at 5q
• Epidemiology
▫ Common
• 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 • Diagnosis
 rare ▫ Same clinical as
DMD/BMD carriers
▫ Moderately elevated
CPK
• Natural history
▫ Slow progression
▫ After onset > 20 y:
contracture &
disability
▫ Rarely significant
scoliosis

•T
r
e
a
 Fascioscapulohumeral Muscular
Dystrophy
• Etiology • Clinical
manifestation
▫ Autosomal dominant
▫ Age of onset: late
▫ Gene defect (FRG1) childhood/ early adult
▫ No cardiac, CNS
▫ Chromosome 4q35 involvement
• Epidemiology ▫ Winging scapula decreased
▫ Markedly
▫ Female > male flexion &
shoulder
abduction
▫ Horizontal clavicles
• 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 • Treatment

CPK
▫ Posterior
• Natural scpulocostal fusion/
history stabilization
▫ Slow (scapuloplexy)
progression
▫ Face, shoulder
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
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 3-6 y 2nd decade 2nd decade 20-77 y At/ after birth
onset

Sex Male Either sex M = F Either sex Both

Inheritance Sex- AR, rare AD AD AD Unknown

linked
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 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 Hypertroph Very rare Very rare Very rare Not

yt observe
achycardia d

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.