MUSCULAR

DYSTROPHY
PT 3Y2 -3
ARADO, BAUTISTA R., CHUA J., DE VERA, EMFLORGO, FEIR, MAGBIRO, NUEVA, PUGEDA, SANTOS R., TAMAYO
Muscular Dystrophy
• Largest and most common group of
progressive and neuromuscular disorders of the
childhood
• Genetic in origin
• Characterized by ongoing symmetrical muscle
wasting without neural or sensory deficits but with
increasing deformity and disability
Related Anatomy and Physiology
Related Anatomy and Physiology
Related Anatomy and Physiology
Related Anatomy and Physiology
◦ Active: Contractile
◦ Myosin heavy chain – motor for muscle
contraction; binds to actin to generate contraction
force
◦ Actin – binds with myosin to translate force and
shorten sarcomere.
Related Anatomy and Physiology
◦ Active: Regulatory
– Tropomyosin – Regulates the interaction between
actin and myosin, stabilizes actin filament
– Troponin – influences the poistion of
tropomyosin; binds with calcium ions
– Myosin light chain – influences the contraction
– Velocity of the sarcomere; modulates the kinetics
of cross bridge cycle
Related Anatomy and Physiology
Structural:
◦ Nebulin – anchors actin to z disc
◦ Titin – creates passive tension within the stretched
◦ Sarcomere – acts as a molecular spring
◦ Desmin – helps to stabilize the longitudinal and lateral
alignment of adjacent sarcomeres
◦ Vimentin – helps maintain periodicity of z discs
◦ Skelemin – helps stabilize the position of M lines
◦ Dystrophin – provides structural stability to the cytoskeleton
and sarcolemma of the muscle fiber
◦ Integrins – stabilizes the cytoskeleton of the muscle fiber
TYPES OF MD &
THEIR DEFINITIONS
◦Muscle Dystrophy
Is a group of diseases
that cause progressive weakness
and loss of muscle mass. In
muscular dystrophy, abnormal
genes (mutations) interfere with the
production of proteins needed to
form healthy muscle.
 Becker MD
- It is named after German doctor
Peter Emil Becker, who first described
this variant of Duchenne muscular
dystrophy (DMD) in the 1950s. BMD is
similar to DMD but allows the voluntary
muscles to function better than they do
in DMD. The heart muscle, however,
can be affected similarly to the way it is
in DMD.
Congenital MD
◦ refers to a group of muscular
dystrophies that become apparent at
or near birth.
◦ Early contractures may include
equinovarus deformities, knee
flexion contractures, hip flexion
contractures and tightness of wrist
flexors and long finger flexors
Duchenne MD
◦ In the early stages, Duchenne MD
affects the shoulder and upper arm
muscles and the muscles of the hips
and thighs. These weaknesses lead to
difficulty in rising from the floor,
climbing stairs, maintaining balance
and raising the arms.
Distal MD
◦Is a class of muscular
dystrophies that primarily affect
distal muscles, which are those of
the lower arms, hands, lower legs
and feet.
 Emery-Dreifuss MD
◦ Usually shows itself by age 10 and is
characterized by wasting and weakness of
the muscles that make up the shoulders and
upper arms and the calf muscles of the
legs. Another prominent aspect of EDMD
is the appearance of contractures (stiff
joints) in the elbows, neck and heels very
early in the course of the disease.
◦ It is named for Alan Emery and Fritz
Dreifuss, physicians who first described the
disorder among a Virginia family in the
1960s.
◦ Cardiac problems are usually detectable by
age 20.
 Facioscapulohumeral MD
◦ It is a genetic muscle disorder in
which the muscles of the face,
shoulder blades and upper arms
are among the most affected.
Weakness and atrophy of the
muscles around the eyes and
mouth, shoulders, upper arms and
lower legs. Later, weakness can
spread to abdominal muscles and
sometimes hip muscles.
 Limb Girdle MD
◦ LGMD usually manifests in the proximal
muscles around the hips and shoulders. The
bony structure that surrounds the shoulder
area, and the pelvic girdle and the bony
structure surrounding the hips, collectively,
these are called the limb girdles, and it is the
observed weakness and atrophy (wasting) of
the muscles connected to the limb girdles
that has given this group of disorders its
name.
◦ LGMD1 (later onset in adulthood); LGMD2
(Childhood or Adolescence)
Myotonic MD
◦ The long, thin face with temporal and
masseter wasting is drawn and has been
described by some as “lugubrious”
◦ Children with congenital myotonic
muscular dystrophy often exhibit a
triangular or so- called “tentshaped
mouth”
◦ Myotonia, a state of delayed relaxation,
or sustained contractionof skeletal muscle
is easily identified
◦ Cardiac involvement is common in DM1
◦ Very high incidence of restrictive lung
disease
Oculopharyngeal MD
◦ Although named for the
muscles it affects first — the
eyelids (oculo) and throat
(pharyngeal) — OPMD also can
affect facial and limb muscles.
Difficulty swallowing and
keeping the eyes open are
common.
EPIDEMIOLOGY
1. Duchenne MD
◦ DMD primarily affects males with an estimated incidence of
1/3,300 male births. Females are usually asymptomatic but a
small percentage of female carriers manifest milder forms of
the disease (symptomatic form of muscular dystrophy of
Duchenne and Becker in female carriers).
2. Becker MD
oBMD primarily affects males with an estimated incidence of
1/18,000 to 1/31,000 male births.
3. Facioscapulohumeral MD
oFSHD is a rare familial disease with an estimated prevalence
of 1/20,000. It is the 3rd most common form of hereditary
myopathy.
4. Congenital MD
◦ The prevalence of CMDs is not well known but is estimated
at about 1-9/100,000 in countries where they are most
frequent. Males and females are equally affected.
5. Oculopharyngeal MD
◦ OPMD is seen worldwide with varying prevalence rates. The
estimated prevalence rate in Europe is 1/200,000-1/100,000.
The highest prevalence rate of 1/1,000 is found in French
Canadians in Quebec and 1/600 in Israel's Bukharan Jews.
6. Myotonic MD
oThe most common form of muscular dystrophy in adults,
affecting 1/8,000 individuals.
7. Limb-girdle MD
◦ LGMDs are very rare disorders, with the autosomal recessive forms more
common than the dominant types which make up about 10% of the LGMDs.
LGMDs show no racial nor gender disparities and present at different ages
depending on the mutation involved. Estimates of prevalence for all forms of
LGMD range from one in 14,500 to one in 123,000.
8. Emery-Dreifuss MD
◦ The overall prevalence of Emery-Dreifuss muscular dystrophy is unknown.
The X-linked type of this disorder affects an estimated 1 in 100,000 people.
The prevalence of the autosomal dominant type is unknown, although it
appears to be more common than the X-linked type.
9. Distal MD
◦ Since no distal myopathy has been linked to the X-chromosome, distal
myopathies affect males and females in equal numbers. The exact incidence of
the distal myopathies is unknown. Some forms have been identified with
greater frequency in certain populations. Udd distal myopathy occurs with
greater frequency in Finland where the prevalence is estimated to be 7 in
100,000 individuals.
 ETIOLOGY &
PATHOPHYSIOLOGY
◦ All muscular dystrophies are caused by a change or
mutation in 1 of the genes located on the chromosomes
(DNA) in human cells.
◦ The genes determine a person’s characteristics and traits,
and the particular genes that cause MD control the
proteins that are critical to muscle health.
◦ The word “dystrophy” comes from words that mean
“difficult or faulty nourishment.
◦ When the MD mutation is present in the genes, a
protein in muscle cells, dystrophin, is changed or
missing or not produced in sufficient amounts.
◦ Proteins are essential for muscle cell health, and when
they do not function properly, the muscle has an
inability to repair itself and becomes weaker.
◦ Muscular dystrophy may also occur from a
spontaneous mutation when a baby is forming; that
mutation will not be found in the genes of either
parent. Many dystrophies result from a spontaneous
mutation.
◦ Also, the parents may be carriers of the abnormal
gene. Muscular dystrophies may be inherited in 3
ways:
◦ Autosomal dominant inheritance occurs when a child receives
a normal gene from 1 parent and a defective gene from the
other parent, who usually has the disorder. Each child has
a 50% chance of inheriting the gene, and males and
females are equally at risk.
◦ Autosomal recessive inheritance means that both parents carry and pass
on the defective gene. Each parent has 1 defective gene, but neither
parent is affected by the disorder. Each child has a 25% chance of
inheriting both copies of the defective gene and developing MD.
Each child also has a 50% chance of inheriting 1 gene and
becoming a carrier of MD, with the ability to pass the dystrophy on
to their children. Males and females are equally at risk.

◦ X-linked (or sex-linked) recessive inheritance occurs when a mother

carries the MD gene on 1 of her 2 X chromosomes and passes that
gene to her son (males always inherit an X chromosome from their
mother and a Y chromosome from their father, while daughters
inherit an X chromosome from each parent). Sons of carrier
mothers have a 50% chance of inheriting MD. Daughters also have
a 50% chance of inheriting the defective gene, but they also inherit a
healthy X chromosome from the father and usually do not have MD.
Fathers with the defective gene cannot pass an X-linked disorder to
their sons, but daughters may be carriers and may pass the gene on
to their children. Girls who are carriers may exhibit milder
symptoms of MD.
Duchene Muscular Dystrophy
◦ X-linked recessive disorder
◦ Abnormality at the Xp21 gene loci
◦ The DMD/BMD gene occupies 2.5 million base pairs of
DNA on the X chromosome and is about 10 times larger
than the next largest gene identified to date
◦ DMD occurs because the mutated gene fails to produce virtually any
functional dystrophin. Lack of dystrophin causes muscle damage
and progressive weakness, beginning in early childhood.
Dystrophin
◦ It is a primary protein product
◦ It is localized to the intracellular side of the plasma
membrane of all myogenic cells, certain types of
neurons, and in small amounts of other cell types
◦ Deficiency at the plasma membrane of muscle
fibers disrupts the membrane cytoskeleton and
leads to the secondary loss of other components
of the muscle cytoskeleton.
Becker Muscular Dystrophy
◦ It is similar pattern of muscle weakness seen in Duchenne
muscular dystrophy
◦ X-linked inheritance, but with later onset and a much slower rate
of progression
◦ In BMD, dystrophin is produced, but it's a shortened form and is only
partially functional. Because of the partially functional
dystrophin, muscles don't degenerate as badly or as quickly in
BMD as they do in DMD, in which virtually no functional
dystrophin is made.
 Limb Girdle Muscular Dystrophy
◦ There are two major groups of LGMDs. Called LGMD1 and
LGMD2; these two groups are classified by the respective
inheritance patterns: autosomal dominant and autosomal recessive.
◦ LGMD1 subtypes usually have later onset in adulthood.
◦ LGMD2 usually present during childhood or adolescence
◦ Many of the LGMD2 subtypes have been linked to gene defects
causing abnormalities of the sarcolemmal-associated proteins,
including sargoglycans (alpha-SG, gammaSG, beta-SG, and delta-
SG), dystroglycans, calpain-3, dysferlin, fukutin related protein
(FKRP), telethonin, and titin.
 Congenital Muscular Dystrophy
◦ Congenital muscular dystrophy (CMD) refers to a
group of muscular dystrophies that become apparent
at or near birth.
◦ The early contractures may include equinovarus
deformities, knee flexion contractures, hip flexion
contractures, and tightness of the wrist flexors and
long finger flexors
◦ Presence or absence of merosin (laminin-2)
 Ullrich CMD
◦ Common group of CMD patients
◦ Unique combination of dystrophic changes on muscle biopsy in
association with weakness, low tone, selected early joint contractures,
and other joints and skin demonstrating clinical laxity
◦ Collagen VI abnormality
❖Ullrich CMD is caused by a change in one of the collagen VI genes (which are
called COL6A1, COL6A2 and COL6A3).
❖Collagen is the main protein of connective (supporting) tissue in the body and
provides support for the muscle cells.
◦ Muscle biopsy shows varied muscle fiber size, some very small muscle
fibers, and an increase in endomysial connective tissue. Rare or
occasional necrotic muscle fibers may be found.
 Fascioscapulohumeral MD
◦ The region of our chromosomes that causes FSHD contains a section with
multiple identical units of DNA called D4Z4 repeats. Each repeat contains a
copy of a gene called DUX4. In FSHD, multiple D4Z4 units are lost, which de-
condenses the DNA and reactivates the DUX4 gene, allowing aberrant
production of the DUX4 protein
◦ slowly progressive
◦ involvement of facial and shoulder girdle musculature
◦ autosomal-dominant inheritance
◦ linkage to the chromosome 4q35 locus
◦ third most common of the dystrophies
◦ incidence of between 10 and 20 per million live births
◦ Age of presentation is generally before age 20
◦ presence of isolated small atrophic fibers. Other fibers may be hypertrophied.
Emery-Dreifuss Muscular Dystrophy
◦ It refers to a group of muscular dystrophies with weakness,
contractures and cardiac conduction abnormalities.
◦ Emery-Dreifuss muscular dystrophy is caused by mutations in
the EMD and LMNA genes. It can be inherited in an X-
linked, autosomal dominant, or autosomal recessive fashion.
◦ Inheritance pattern is variable among subtypes.
◦ Emery-Dreifuss 1
◦ an X-linked recessive progressive
◦ abnormality of the protein “Emerin” with a gene locus identified at
Xq28
◦ protein is associated with the subcellular nucleus and cytoplasm
membranes, and is found in muscle, nerve, mucosal epithelium, skin,
and cardiac tissue
◦ Early elbow flexion contractures are a hallmark of the disease
◦ Emery-Dreifuss 2
◦ due to a lamin A/C protein abnormality
◦ has been linked to chromosome 1q21.2
◦ Inheritance may be dominant or recessive
◦ Patients demonstrate paravertebral weakness or rigidity, and tendon
contractures are common
◦ Contractures are rare, and weakness is in a limb girdle distribution
 Myotonic Muscular Dystrophy
(DM1)
◦ autosomal-dominant multisystem muscular
dystrophy
◦ incidence of 1 per 8,000
◦ It represents the most common inherited
neuromuscular disease of adults
◦ The disorder affects skeletal muscle, smooth muscle,
myocardium, brain, and ocular structures.
◦ DM1 has three forms that somewhat overlap: the mild
form, classic form, and congenital form (present at
birth).
◦ The mild form has the least severe symptoms of the different
forms of MD1 and is associated with a normal life span.
◦ The classic form is characterized by muscle weakness and
wasting, prolonged muscle tensing (myotonia), cataract, and
often, abnormal heart function. Adults with the classic form
may become physically disabled and may have a shortened life
span.
◦ The congenital form is characterized by severe generalized
weakness at birth (hypotonia), often causing complications with
breathing and early death. MD1 is inherited in an autosomal
dominant manner and is caused by mutations in the DMPK
gene. Treatment is based on the signs and symptoms present.
 SIGNS &
SYMPTOMS
Becker MD
is similar to Duchenne muscular dystrophy, but it’s less severe.
This type of muscular dystrophy also more commonly affects boys.
Muscle weakness occurs mostly in your arms and legs, with
symptoms appearing between age 11 and 25. Other symptoms of
Becker muscular dystrophy include:
◦ walking on your toes
◦ frequent falls
◦ muscle cramps
◦ trouble getting up from the floor
Many with this disease don’t need a wheelchair until they’re in
their mid-30s or older, and a small percentage of people with this
disease never require one. Most people with Becker muscular
dystrophy live until middle age or later.
DUCHENNE MD
This type of muscular dystrophy is the most common among children. The majority of
individuals affected are boys. It’s rare for girls to develop it. The symptoms include:
◦ trouble walking
◦ loss of reflexes
◦ difficulty standing up
◦ poor posture
◦ bone thinning
◦ scoliosis, which is an abnormal curvature of your spine
◦ mild intellectual impairment
◦ breathing difficulties
◦ swallowing problems
◦ lung and heart weakness
Individuals with Duchenne muscular dystrophy typically require a wheelchair before
their teenage years. The life expectancy for those with this disease is late teens or 20s.
CONGENITAL MD
Congenital muscular dystrophies are often apparent between birth and age 2.
This is when parents begin to notice that their child’s motor functions and muscle
control aren’t developing as they should. Symptoms vary and may include:
◦ muscle weakness o trouble swallowing
◦ poor motor control o respiratory problems
◦ inability to sit or stand without support o vision problems
◦ scoliosis o speech problems
◦ foot deformities o intellectual impairment

While symptoms vary from mild to severe, the majority of people with
congenital muscular dystrophy are unable to sit or stand without help. The
lifespan of someone with this type also varies, depending on the symptoms.
Some people with congenital muscular dystrophy die in infancy while others live
until adulthood.
DISTAL MD
◦ also called “distal myopathy”. It affects the muscles in
your:
◦ forearms
◦ hands
◦ calves
◦ feet
It may also affect your respiratory system and heart muscles.
The symptoms tend to progress slowly and include a loss of
fine motor skills and difficulty walking. Most people, both
male and female, are diagnosed with distal muscular
dystrophy between the ages of 40 and 60.
EMERY-DREIFUSS MUSCULAR
DYSTROPHY (EDMD)
tends to affect more boys than girls. This type of muscular
dystrophy usually begins in childhood. The symptoms include:
◦ weakness in your upper arm and lower leg muscles
◦ breathing problems
◦ heart problems
◦ shortening of the muscles in your spine, neck, ankles, knees, and
elbows

Most individuals with Emery-Dreifuss muscular dystrophy die in

mid-adulthood from heart or lung failure.
 FASCIOSCAPULOHUMERAL MD
(FHD OR FSHD)
is also known as “Landouzy-Dejerine disease”. This type of muscular
dystrophy affects the muscles in your face, shoulders, and upper arms. FSHD
may cause:
◦ difficulty chewing or swallowing
◦ slanted shoulders
◦ a crooked appearance of the mouth
◦ a wing-like appearance of the shoulder blades
◦ A smaller number of people with FSHD may develop hearing and
respiratory problems.
FSHD tends to progress slowly. Symptoms usually appear during your
teenage years, but they sometimes don’t appear until your 40s. Most people
with this condition live a full life span.
LIMB-GIRDLE MD
This form of muscular dystrophy is actually a group of related conditions. It usually starts
in childhood or during the teenage years.
Often the muscles that become weak first are the big muscles of the:
◦ pelvis
◦ shoulders
◦ hips
The muscle weakness gets worse very slowly over time.
Other symptoms include:
◦ Loss of muscle in affected areas
◦ Back pain
◦ Trouble lifting objects
◦ Difficulty running
◦ Fast heartbeat (palpitations) or irregular heartbeat
How serious the effects are depends on the child. Some children have only mild muscle
weakness. Others are so weak they need to use a wheelchair.
In its later stages, limb-girdle muscular dystrophy can cause serious heart problems.
MYOTONIC MD
is also called “Steinert’s disease or dystrophia myotonica”. This form of
muscular dystrophy causes myotonia, which is an inability to relax your
muscles after they contract. Myotonia is exclusive to this type of muscular
dystrophy.

Myotonic dystrophy can affect your:

◦ facial muscles
◦ central nervous system
◦ adrenal glands
◦ heart
◦ thyroid
◦ eyes
◦ gastrointestinal tract
Symptoms most often appear first in your face and neck. They include:
◦ drooping muscles in your face, producing a thin, haggard look
◦ difficulty lifting your neck due to weak neck muscles
◦ difficulty swallowing
◦ droopy eyelids, or ptosis
◦ early baldness in the front area of your scalp
◦ poor vision, including cataracts
◦ weight loss
◦ increased sweating

This dystrophy type may also cause impotence and testicular atrophy in males. In
women, it may cause irregular periods and infertility.
Myotonic dystrophy diagnoses are most common in adults in their 20s and 30s.
While its symptoms can affect your quality of life, most of the symptoms are not
life-threatening. People with myotonic dystrophy often live a long life.
OCULOPHARYNGEAL MD
In oculopharyngeal MD, symptoms aren't usually apparent until a person is around 50 or
60 years old. It affects the muscles in the eyes (ocular) and the throat (pharyngeal).

Symptoms of oculopharyngeal MD can include:

◦ droopy eyelids
◦ difficulty swallowing
◦ progressive restriction of eye movement as the eye muscles become affected
◦ limb weakness around the shoulders and hips
◦ As the eyelids droop, they can cover the eyes and impair vision. It's also possible to
develop double vision.

Dysphagia can eventually make it difficult to swallow solid foods, liquids and even small
amounts of saliva. This can lead to chest infections if food and drink is accidentally
swallowed the "wrong way" into the lungs. However, with treatment to manage the
symptoms, a person's life expectancy isn't usually altered.
DUCHENNE MUSCULAR
DYSTROPHY
DIAGNOSIS
◦ DMD can be detected with
about 95% accuracy by genetic
studies performed during
pregnancy
◦ DNA Test
The muscle-specific isoform of
the dystrophin gene is composed
of 79 exons, and DNA testing
and analysis can usually identify
the specific type of mutation of
the exon or exons that are
affected. DNA testing confirms
the diagnosis in most cases.
 DIAGNOSIS

◦ Muscle Biopsy
If DNA testing fails to find the
mutation, a muscle biopsy test may
be performed. These tests provide
information on the presence or
absence of the protein. Absence
of the protein is a positive test for
DMD.
PROGNOSIS
◦ Duchenne muscular dystrophy
is a rare progressive disease
which eventually affects all
voluntary muscles and involves
the heart and breathing muscles
in later stages.
◦ As of 2013, the life expectancy
is estimated to be around 25,
but this varies. With excellent
medical care males are often
living into their 30s.
◦ In rare cases, people with DMD
have been seen to survive into
their forties or early fifties, with
proper positioning in
wheelchairs and beds, and the
use of ventilator support (via
tracheostomy or mouthpiece),
airway clearance, and heart
medications.
BECKER MD
 DIAGNOSIS
◦ In terms of the diagnosis of
Becker muscular dystrophy
symptom development
resembles that of Duchenne
muscular dystrophy.
◦ Blood Tests
To measure the levels of
enzymes released from
damaged muscles
DIAGNOSIS
◦Electrical
Stimulation of
Nerves
To measure your
muscle function
◦Muscle tissue sample
To check for signs of
muscular dystrophy
DIAGNOSIS
◦Gene Analysis
◦To look for an
abnormal dystrophin
gene
◦X-rays of your spine
 PROGNOSIS
◦ The progression of Becker muscular dystrophy is highly variable—much
more so than Duchenne muscular dystrophy.
◦ Severity of the disease may be indicated by age of patient at the onset of
the disease.
◦ Onset at around age 7 to 8 years of age shows more cardiac involvement
and trouble climbing stairs by age 20, if onset is around age 12, there is
less cardiac involvement.
◦ The quality of life for patients with Becker muscular dystrophy can be
impacted by the symptoms of the disorder. But with assistive devices,
independence can be maintained.
◦ People affected by Becker muscular dystrophy can still maintain active
lifestyles.
LIMB GIRDLE MD
 DIAGNOSIS
◦ Blood Test (CK level)
When elevated CK levels are found
in a blood sample, it usually means
muscle is being destroyed by some
abnormal process, such as a muscular
dystrophy or inflammation.
Therefore, a high CK level suggests
that the muscles themselves are the
likely cause of the weakness

◦ Electromyography
In this kind of test, the electrical
activity of the muscles is measured
and nerves stimulated to see where
the problem lies.
PROGNOSIS
◦ The natural history of
limb-girdle muscular
dystrophy is one of
gradual progression over
years, with life expectancy
beyond the fifth and sixth
decades of life.
CONGENITAL MUSCULAR
DYSTROPHY
 DIAGNOSIS
◦ Blood Test (CK level)
When elevated CK levels are found
in a blood sample, it usually means
muscle is being destroyed by some
abnormal process, such as a muscular
dystrophy or inflammation.
Therefore, a high CK level suggests
that the muscles themselves are the
likely cause of the weakness

◦ Electromyography
In this kind of test, the electrical
activity of the muscles is measured
and nerves stimulated to see where
the problem lies.
 PROGNOSIS
◦ Some types of muscular dystrophy affect only males;
some people with MD enjoy a normal life span with mild
symptoms that progress very slowly; others experience
swift and severe muscle weakness and wasting, dying in
their late teens to early 20s.
ULLRICH CONGENITAL MD
DIAGNOSIS

◦Biopsy
◦Genetic Testing
PROGNOSIS

◦ Affected individual may

eventually have feeding
difficulties.
◦ Surgery, at some point,
might be an option for
scoliosis.
FACIOSCAPULOHUMERAL MD
DIAGNOSIS

◦Blood Test (CK

level)
◦Electromyography
◦Muscle Biopsy
 PROGNOSIS
◦ The mean age at diagnosis among the registered FSHD patients was 42
years, and with an average life expectancy of 39 years from the age of
diagnosis.
◦ The prognosis for FSHD includes a loss of muscular strength that limits
both personal and occupational activities, and approximately one-quarter
of patients over 50 years of age require the use of a wheelchair
EMERY-DREIFUSS MD
DIAGNOSIS
◦ Electromyography
To assess the electrical activity in the
muscle
◦ Electrocardiogram
To assess the heart patterns and look
for abnormal heart rhythms
◦ CK level test
To measure the amount of creatine
kinase in blood; this may usually range
from mild levels to about 10 times
elevation levels. The higher the
creatine kinase level indicates more
unusual muscle damage
DIAGNOSIS
◦ Muscle biopsy
It is the examination of muscle
under the microscope by a
pathologist. Special tests may be
performed to confirm the
diagnosis
◦ Molecular genetic tests
To detect specific gene mutation
 PROGNOSIS
◦ Due to the risk of serious heart and respiratory
problems, someone with Emery-Dreifuss MD will
often have a shortened life expectancy. However, most
people with the condition live until at least middle age.
MYOTONIC MD
DIAGNOSIS
◦ DNA Testing
 PROGNOSIS
◦ Life expectancy for people with myotonic dystrophy
can vary considerably. Many people have a normal life
expectancy, but people with the more severe
congenital form (present from birth) may die while
still a newborn baby, or only survive for a few years.
 SURGICAL
MANAGEMENT
 SPINAL FUSION
◦ People with muscular dystrophy may develop scoliosis, a condition
that causes the spine to curve in an abnormal way and may lead to
disability. Scoliosis can affect both children and adults.
◦ Spinal fusion surgery is an effective way to straighten and stabilize
the bones of the spine, called vertebrae. Straightening the spine
also helps to preserve lung function.
◦ In this procedure, a surgeon uses rods, screws, wires, and
bone grafts, which are small pieces of bone taken from other
parts of the body, to permanently join the vertebrae. New
bone eventually grows over the graft. It may take several
months to a few years for the bones to fuse completely.
 TENDON RELEASE
◦ When muscles and tendons harden, shorten, and contract, they can make joints
rigid and affect their growth and movement. Soft tissue release surgery involves
making an incision in affected muscles, tendons, or ligaments to release them
from the joints, allowing people with muscular dystrophy to move more freely
and comfortably.
◦ This surgery is often performed in children on the Achilles tendon. This tendon
is made of thick, inflexible fibers, which sometimes need to be cut to allow for a
thorough repositioning of the foot.
◦ Most children experience little discomfort after the procedure. The child wears a
cast for three weeks after surgery. During this time, the Achilles tendon regrows
to a longer length, due to the positioning of the cast.
◦ By the time the cast is removed, the tendon has healed and allows for greater
range of motion and the correct positioning of the child’s foot during walking
and physical therapy. Early physical rehabilitation is essential to helping your child
walk and move following surgery.
PHARMACOLOGICAL
MANAGEMENT
Medication for Muscular
Dystrophy:
◦ Eteplirsen (Exondys 51), the first medication to be approved by the
Food and Drug Administration specifically to treat Duchenne
muscular dystrophy. It was approved conditionally in 2016 and will
continue to be evaluated during an additional two years of use.

◦ Although the medication appears safe, it's not clear how effective
the drug is. It's definitely not a cure for DMD, but it may increase
muscle strength in some people treated with the drug. Eteplirsen
acts on specific gene variants that affect approximately one in
seven people with DMD.
◦ Corticosteroids, such as prednisone, which can help muscle
strength and delay the progression of certain types of muscular
dystrophy. But prolonged use of these types of drugs can cause
weight gain and weakened bones, increasing fracture risk.

◦ Heart medications, such as angiotensin-converting enzyme

(ACE) inhibitors or beta blockers, if muscular dystrophy
damages the heart.

◦ Anticonvulsants. Typically taken for epilepsy, these drugs may

help control seizures and some muscle spasms.
◦ Immunosuppressants. Commonly given to treat autoimmune
diseases such as lupus and eczema, immunosuppressant drugs
may help delay some damage to dying muscle cells.

◦ Antibiotics to treat respiratory infections.

REHABILITATION
MANAGEMENT
◦ Physical therapy should begin as soon as possible after diagnosis and
before joint or muscle tightness has developed.
◦ Physical therapists identify muscle weakness, and work with each child to
keep muscles as flexible and strong as possible, help reduce or prevent
contractures and deformities, and encourage movement and mobility for
optimal function throughout all the stages of life.
◦ Each treatment plan is designed to meet the child’s needs using a family-
centered approach to care.
◦ If assistive devices are needed, the physical therapist may collaborate
with other professionals to determine the best walking aids, braces, or
wheelchair for each child.
◦Evaluation. The child's physical therapist will perform
an evaluation that includes a detailed birth and developmental
history.
◦ The physical therapist will also ask about the child's overall
health, and about any parental concerns.
◦ The physical therapist will conduct a physical examination, and
perform specific tests to determine the child's motor development,
such as sitting, crawling, getting up to standing, and walking.
◦ Physical therapists know the importance of addressing the child's
needs with a team approach where all of the health care
professionals provide holistic care that ensures mobility
throughout the lifespan.
G
O S
W I
E G
R N
‘
S
◦Treatment. Physical therapists work with children who have MD
to prevent or reduce joint contractures, maintain or improve
cardiorespiratory and muscle strength, adapt activities or the
environment to promote movement and mobility skills, and increase
daily activities, which encourages participation in the community.
1. Passive and active stretching. Physical therapist will assist the
child in increasing joint flexibility (range of motion) and preventing
or delaying the development of contractures. Passive stretching
should not be painful.
2. Maintaining strength. Physical therapist will teach the child exercises
to maintain muscle and trunk strength and to use good posture and body
mechanics throughout the lifespan. The therapist will identify games and
fun tasks that promote strength. As the child grows, the therapist will
identify new games and activities to reduce the risk of obesity and increase
heart health. Over exercising can damage muscles, so families are
encouraged to seek physical therapy services early in order to identify the
best strengthening activities for the child.
3. Exercises for breathing. The physical therapist may provide a
program to maintain good respiratory strength or may work with
respiratory therapists or speech therapists in designing such a
program.
4. Improving developmental skills. Physical therapist will help the
child learn to master motor skills, such as crawling, getting up to
standing, walking, and jumping. The therapist will provide an
individualized plan of care that is appropriate based on the child's
developmental level and motor needs.
5. Foster physical fitness and activity. The physical therapist will
assist in determining the specific exercises, diet, and community
involvement that will promote good health. When needed, mobility
aids, such as wheelchairs, splints and braces, and home devices may
be prescribed to help maintain mobility.