Muscular dystrophy is a genetic disease that causes progressive muscle weakness and degeneration. There are over 30 types of muscular dystrophy that differ in severity, onset, and muscles affected. Common symptoms include progressive muscle weakness, loss of mobility, and damage to heart, lungs and other organs in some cases. The document discusses several specific types of muscular dystrophy like Duchenne MD, Becker MD, limb girdle MD and myotonic MD. It covers their causes, inheritance patterns, symptoms and management options.

1. Presented by:
Gebusion Rhoan, Mendoza, Porras Franzel, Sarito.
MUSCULAR
DYSTROPHY

2. WHAT IS MUSCULAR
DYSTROPHY?
❑ Muscular dystrophy (MD) is a group of genetic
diseases causing progressive weakness and
degeneration of skeletal muscles.
❑ There are more than 30 variations of these disorders,
differing in age of onset, severity, and the pattern of
affected muscles.
❑ All forms of MD worsen over time as muscles
degenerate, often leading to the loss of walking ability.

3. WHAT IS MUSCULAR
DYSTROPHY?
❑ Certain types of MD can also affect the heart, lungs,
gastrointestinal system, endocrine glands, spine, eyes,
brain, or other organs.
❑ Some individuals with MD may develop a swallowing
disorder.
❑ It's important to note that MD is not contagious and
cannot be caused by injury or activity.

4. THE IMPACT OF
MUSCULAR DYSTROPHY

5. Within the muscle fiber membrane, the dystrophin-glycoprotein
complex, a group of proteins, safeguards against damage during
muscle contractions and relaxations.When this protective
membrane is compromised, muscle fibers release creatine kinase
and accumulate excess calcium, leading to damage and eventual
degeneration.
Some muscular dystrophies result from defects in the
dystrophin-glycoprotein complex, others from issues in
connective tissue, and still others from the expression of
harmful gene products in muscle fibers.

6. ○ Muscle degeneration
○ Progressive weakness
○ Fiber death and phagocytosis (wherein muscle
fibers are broken down and destroyed by
scavenger cells)
○ Fiber branching and splitting
○ Replacement of muscle tissue with fibrous
tissue and fat
This damage can cause:

7. CONDITIONS SIMILAR TO
MuSCULAR DYSTROPHY

8. FEATURES MYOPATHY DYSTROPHY
EXAMPLES OF
DISORDERS
➢ THYROID DISEASE
➢ CENTRONUCLEAR
➢ CENTRAL CORE DISEASE
❖ DUCHENE
❖ BECKER
❖ LIMB GIRDLE
ETIOLOGY ➢ CONGENITAL
➢ METABOLIC
➢ ENDOCRINE
❖ GENETIC
INHERITANCE ➢ SPORADIC
➢ AUTOSOMAL RECESSIVE
❖ ALWAYS INHERITED
PROGRESSION ➢ STATIC OR IMPROVE
WITH TIME OR
TREATMENT
❖ ALWAYS PROGRESSIVE
MUSCLE ENZYMES ➢ MILDLY INCREASED
(100s) OR NORMAL
❖ MARKEDLY INCREASED
(1000s)
ELECTROMYOGRAPY ➢ NO FIBRILLATIONS ❖ FIBRILLATIONS BECAUSE
OF ACTIVE MUSCLE
NECROSIS

9. Muscular Dystrophy
Can be inherited in
Three ways

10. 1. Autosomal dominant inheritance occurs when a child
receives a "normal" gene from one parent and a defective
gene from the other parent.
2. Autosomal recessive inheritance means that both parents
carry and pass on the faulty gene.
3. X-linked (or sex-linked) recessive inheritance occurs when
the female parent carries the affected gene passes it to the
male child.

11. TYPES, CAUSE AND
SYMPTOMS OF
MuSCULAR DYSTROPHY

12. Duchenne Muscular Dystrophy
❏ Causes
It normally appear by the age of six,
and the illness primarily affects
boys from birth.
❏ Is a disorder that produces skeletal and cardiac
muscle weakness that worsens rapidly over time.
❏ Children assigned male at birth (AMAB) are most
affected, where as children assigned female at
birth (AFAB) who are DMD carriers may
experience lesser symptoms.

13. Symptoms:
❏ Breathing problems
❏ Scoliosis
❏ Fatigue
❏ Toe walking
❏ Learning differences
❏ Short stature (height)
❏ Progressive muscle
weakness and atrophy
❏ Delayed speech and
language development
❏ Developmental delay
❏ Frequent falls
❏ Calf muscle hypertrophy
❏ Difficult climbing up
stairs

14. ❏ Is a rare genetic disorder characterized by
gradual muscular degeneration and
weakening.
❏ Its X-linked inheritance, it nearly exclusively
affects those who are born male.
Becker Muscular Dystrophy
❏ Causes
It normally appear by the age of six,
and the illness primarily affects boys
from birth.

15. Symptoms:
OTHER
SYMPTOMS
❏ Cardiopathy
❏ Breathing problem
❏ Learning differences
❏ Fatigue
COMMON
SYMPTOMS
❏ Arm weakness
❏ Difficulty walking that
gets worse over time
❏ Toe walking
❏ Hard getting out of chair
❏ Muscle pain and/or
spasms
❏ Frequent falls

17. ❏ Refers to a class of muscular dystrophies that manifest
themselves at or near birth. In general, muscular dystrophies
are hereditary, degenerative disorders that mostly affect
voluntary muscles.
❏ It begins at or near birth and progresses differently according
to the kind.
Congenital Muscular Dystrophy
❏ Causes
Genetic mutations affecting some of the
proteins necessary for muscles and sometimes
for the eyes and/or brain.

18. Overall muscle weakness with possible joint stiffness or
looseness. Depending on the type, may involve spinal
curvature, respiratory insufficiency, intellectual
disabilities, learning disabilities, eye defects or seizures.
Symptoms:

19. ❏ Force transmission is a key function of the matrix surrounding
muscle fibers. To pull on bones, a muscle
must come into touch with something that
transfers force from the muscle fibers to
the tendons and bones.
CMD cellular view of muscle-fiber
membrane and matrix

20. Emery-Dreifuss Muscular Dystrophy
❏ A class of hereditary, degenerative disorders that
mostly affect voluntary muscles.
❏ Cause
Mutations in the genes that create proteins in the
membrane around the nucleus of each muscle
cell. Can be inherited in a variety of ways.

21. Symptoms:
❏ Muscular wasting and weakening in the
shoulders, upper arms, and calf muscles of the
legs.
❏ Contractures (tight joints) in the elbows, neck, and
heles are weakening.
❏ Most significantly, EDMD is associated with a
form of cardiac issue known as conduction block.

22. Facioscapulohumeral MD
❏ A hereditary muscular condition that mostly
affects the muscles of the face, shoulder blades,
and upper arms.
❏ Muscular dystrophy is a gradual muscle
degeneration characterized by growing weakness
and atrophy (loss of muscle size)

23. Symptoms:
❏ Cause
Inherited from either the father or the mother, or it
might develop spontaneously. A genetic fault
(mutation) that results in incorrect expression is
the most likely cause of FSHD.
❏ Muscular weakness, and it
can also impact hearing and
vision.
❏ Weakens the muscle in face,
shoulders, and upper arms.

24. ❏ Cause
Manufacture the various proteins
needed by the body.
Limb-girdle Muscular Dystrophy
❏ A wide range of illnesses with several
subcategories classified by disease gene and
inheritance. LGMD is most commonly seen in
the proximal muscles surrounding the hips
and shoulders

25. ❏ Reaching over the head
❏ Holding the arms outstretched
❏ Lifting heavy things
❏ Difficulty typing
❏ Difficulty feeding themselves
Symptoms:

26. Myotonic Muscular Dystrophy
❏ is a kind of muscular dystrophy that affects the
muscles as well as several other organs in the
body. "Myotonic" is the adjectival form of
"myotonia," which is described as the inability to
relax muscles at volition by weakening and
shrinking of muscle tissue.

27. Myotonic Muscular Dystrophy
❏ Cause
The enlarged DNA regions in these two genes
appear to have a wide range of complicated
impacts on cellular activities. The repeat
expansion in both DM1 and DM2 is transcribed
into RNA but stays untranslated in protein.

28. ❏ Type 1 diabetes (DM1), also known as Steinert
disease, develops when a gene on chromosome 19
called DMPK includes an abnormally enlarged
portion near the regulatory region of another gene.
❏ Type 2 diabetes (DM2), identified in 1994 as a
milder form of DM1, is caused by an abnormally
enlarged region of the ZNF9 gene on chromosome
3. PROMM, or proximal myotonic myopathy,
was the initial name for DM2, and it is
still used today.

29. ❏ Diabetes induces voluntary muscular
weakness.
❏ Heart muscle may weaken.
❏ Breathing muscles can weaken.
Symptoms:

30. ❏ Cause
A genetic defect in the PABPN1
gene, which leads to the production
of a nonfunctional protein that
forms clumps in the muscle cells.
❏ OPMD is an uncommon, slowly progressing
myopathy characterized by eyelid (ocular) and
throat (pharyngeal) muscular weakening.
Oculopharyngeal MD

31. ❏ Some people with OPMD suffer mobility
challenges as the disease progresses.
❏ The most frequent symptoms of the condition
are difficulty eating (dysphagia) and droopy
eyes (ptosis).
Symptoms:

32. Distalo Muscular Dystrophy
❏ A kind of muscular dystrophy that typically
affects the distal muscles of the lower arms,
hands, lower legs, and feet. Muscular
dystrophies are a class of hereditary,
degenerative disorders that mostly affect
voluntary muscles.

33. ❏ Muscle weakness and wasting in
the hands, forearm, and lower
legs.
Symptoms:
❏ Cause
A mutation in one of at least eight genes that
impact proteins required for muscular function.
It can be passed down in either an autosomal
dominant or recessive form.

34. How Common is Muscle Dystrophy?
According to the Cleveland Clinic, muscular dystrophy
is relatively rare. All of the different types combined
effect about 16 to 25 per 100,000 people in the U.S. The
most common childhood form is Duchenne muscular
dystrophy.
In the Philippines, the MDAP(Muscular Dystrophy
Association of the Philippines) estimates that over 200
individuals are affected by the disease, constituting
about 0.0002% of the entire population.

35. Management and Treatment
❏ People with muscular dystrophy should have a team
of doctors and therapists to monitor their condition
and provide care.
❏ Medications like corticosteroids can help with muscle
strength, but they can have side effects. Newer drugs
have been approved for certain types of muscular
dystrophy. Therapy, such as stretching exercises and
low-impact aerobic exercise, can improve mobility
and quality of life.

36. Management and Treatment
❏ It's important to prevent respiratory infections by
getting vaccinated and avoiding sick people.
❏ These mutations are usually inherited from parents
who carry the faulty genes.

37. Diagnosis and Test
To diagnose muscular dystrophy, doctors will conduct a
physical exam, ask about family medical history, and
inquire about the specific symptoms observed in the
child. They may also use various tests, such as blood
tests to check enzyme levels, electromyography to
measure electrical activity in the muscles, muscle
biopsy to examine muscle tissue, and tests of
muscle strength, reflexes, and coordination.

38. Diagnosis and Test
Additionally, an electrocardiogram and imaging
techniques like MRI or ultrasound may be used to
assess the heart and muscles. Genetic testing can
also be performed to identify the specific genes
responsible for muscular dystrophy. It is important
to consult with a doctor or genetics counselor to
understand the implications of the test results,
especially for individuals planning to have
children.

39. THANK YOU!