Muscular Dystrophy
Refers to a group of hereditary progressive
diseases.
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.
A day in the life of a Felix –
Movie based on DMD
Pathophysiologic
the exact mechanism is unknown, but there are 3
theories
• Vascular theory: the lack of blood flow
causes the typical degeneration of muscle
tissue.
• Neurogenic theory: Disturbance in nerve-
muscle interaction.
• Membrane theory: the cell membranes are
genetically altered, causing a compromise in cell
integrity.
• An increase in the activity of muscle proteolytic
enzymes may accompany the membrane
alteration. Leaving the muscle cell vulnerable to
degeneration.
Symptoms
• Muscle weakness
• Delayed development of muscle motor skills
• Problems walking (delayed walking)
• Difficulty using one or more muscle groups (depends
on the type of dystrophy)
• Eyelid drooping (ptosis)
• Drooling
• Hypotonia
• Mental retardation ( only present in some types of MD)
• Joint contractures (clubfoot, claw hand or others)
• Scoliosis
Signs and Tests
Examination and history help to distinguish the type of
MD.
Specific muscle groups are affected by different types of
MD.
Often, there is a loss of muscle mass (wasting), which may
be disguised in some types of muscular dystrophy by an
accumulation of fat and connective tissue that makes the
muscle appear larger (pseudohypertrophy).
Joint contractures are common
. Shortening of the muscle fibers, fibrosis of the connective
tissue and scarring slowly destroy muscle function.
Some types of MD involve the heart muscle,
causing cardiomyopathy or arrhythmias.
A muscle biopsy may be the primary test
used to confirm the diagnosis.
In some cases a DNA test from the blood
may be sufficient.
• Skeletal muscle is a rich source of several
enzymes including CK ,AST,Aldose and
LDH.
• The measurement of total CK activity is
the most widely used enzyme in the
investigation of muscle damage
Laboratory Test
Muscle biopsy: the primary test used to confirm
the diagnosis.
DNA test
Serum CPK (creatine phosphokinase-an enzyme
found in muscle) may be elevated.
EMG (electromyography) may confirm that
weakness is caused by destruction of muscle
tissue rather than damage to nerves.
ECG to monitor changes in cardiac status.
Myoglobin - urine/ serum: When muscle
is damaged, the myoglobin is released
into the bloodstream. It is filtered out of
the bloodstream by the kidneys, and
eliminated in urine.
In large quantities, myoglobin can damage
the kidney and break down into toxic
compounds, causing kidney failure.
LDH: (Lactate dehydrogenase )
LDH is most often measured to evaluate the
presence of tissue damage.
The enzyme LDH is in many body tissues,
especially the heart, liver, kidney, skeletal
muscle, brain, blood cells, and lungs.
Creatinine : A normal (usual) value is 0.8 to
1.4 mg/dl.
Creatinine is a breakdown product of
creatine, which is an important
constituent of muscle.
A serum creatinine test measures the
amount of creatinine in the blood.
Greater-than-normal levels may indicate:
Muscular dystrophy.
Lower-than-normal levels may indicate:
Muscular dystrophy (late stage)
AST(Aspartate aminotransferase) The
normal range is 10 to 34 IU/L.
An increase has many indications, one of
them being progressive MD.
• DUCHENNE MUSCULAR DYSTROPHY
Emery-dreifuss
• X linked
• onset :childhood
• Triad of:
1-early contracture
elbow, ankle &posterior cervical
2-progressive scapulohumroperoneal
3-cardiomyopathy with atrial conduction
defect
EDMD
• Diagnosis • Natural history
– Gower’s sign – 1st 10 y: mild
– Mildly/moderately elevated weakness
CPK – Later: contracture,
– EMG: myopathic cardiac abnormality
– Normal dystrophin – 5th-6th decade: can
ambulate
– Poor prognosis in
obesity, untreated
equinus
contractures.
Limb girdle dystrophy
• Autosomal recessive at chromosome 15q
• Autosomal Dominant at Chromosome 5q
• Onset: adolescence or late(3rd decade)
• Clinical manifestation
– Slow progression, contracture & disability
– Rarely significant scoliosis
• Classification
– Pelvic girdle type
• common
– Scapulohumeral type
• Rare
• Diagnosis: Moderately elevated CPK and
normal Dystrophin
Fascioscapulohumeral muscular dystrophy
Autosomal dominant
• Epidemiology Female > male
• Clinical manifestation
–Age of onset: late childhood/ early adult - No cardiac, CNS involvement
Clinical manifestation
–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
FSMD: Clinical manifestation
• Winging scapula
• Markedly decreased shoulder
flexion & abduction
• Horizontal clavicles
• forward sloping
• Rare scoliosis
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 and
non progressive
• Muscle biopsy :dystrophy…
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)
oculopharengeal
Autosomal dominant
• Onset:5th &6th decade
• Ptosis &dysphagia
• 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
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
Progressive Muscular Dystrophy
Type Onset Age (years) Clinical Features Other organ systems involved
Duchenne Before 5 1.Progressive weakness of Cardiomyopathy
girdle muscles. Mental impairment
2.unable to walk after age 12
3.progressive kyphoscoliosis
4.Respiratory failure in 2dor 3d
decade.
Becker early childhood to adult 1.Progressive weakness of Cardiomyopathy
5-25yr girdle muscles
2. able to walk after age
15.
1.3. respiratory failure may
develop by 4th grade
Emery-Dreifuss Childhood to adult Elbow contractures, humeral Cardiomyopathy
and perineal weakness
Limb-Girdle early childhood to adult Slow progressive weakness of Cardiomyopathy
shoulder and hip girdle muscles
Progressive Muscular Dystrophy
Type Onset Age (years) Clinical Features Other organ systems involved
Congenital At birth or within 1st .Hypotonia, contractures, CNS and
few months delayed milestones Eye abnormalities
Progression to respiratory
failure in some;
Facioscapulohumeral Before age 20 Slowly progressive weakness Deafness
of face, shoulder girdle, and Coat’s (eye) disease
foot dorsiflexion
Oculopharyngeal 5th to 6th decade Slowly progressive weakness ______
of extraocular, pharyngeal, and
limb muscles
Myotonic Usually 2nd decade Slowly progressive weakness Cardiac conduction defects
May be infancy if of face, shoulder girdle, and Mental impairment
mother affected foot dorsiflexion Cataracts
Frontal baldness
Gonadal atrophy
Management
• Multidisciplinary. Care for these patients involves arranging for
consultations with physical therapy, occupational therapy, respiratory
therapy, speech therapy, psychosocial therapy, and dieticians.
• Reinforce techniques learned in all of the above therapies.
• Educate client and family members thoroughly about expected outcomes
and possible problems.
• Encourage exercise while teaching s/s of exercise overload: feeling weaker
rather than stronger after exercise, excessive muscle soreness, severe
muscle cramping, heaviness of extremities, and prolonged shortness of
breath.
• Ensure braces are a good fit to prevent pressure ulcers and promote
stability.
• Have equipment (braces, wheelchairs) evaluated by PT, OT to ensure
proper fit.
• Be sensitive to psychosocial needs and make appropriate referrals.
• Refer to support groups and clinics.
