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RT:107 Neuro
The subject provides knowledge on normal and medical – surgical conditions that may
lead to transient or permanent respiratory impairment which affects the neuromuscular
system. Topics included are thoracic cage and spinal column deformities, effects of
abdominal/ thoracic excursions and ventilation, and neuromuscular disorders.

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Specific Muscular Disorders

 Duchenne Muscular Dystrophy

 Becker Muscular Dystrophy
 Myotonic Muscluar Dystrophy
 Polymyositis and Dermatomyositis
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Duchenne Muscular Dystrophy
• (most common cause) X-linked (refers to
X chromosome) genetic disease, resulting
in rapidly worsening muscle weakness
and a decrease in muscle mass over time.
• Being male (risk factor) because men
tends to have one copy of X
chromosomes and women tends to be a
carrier and asymptomatic to the disease.
(male-XY, female-XX)
• Autosomal recessive disorder (both
parents is the carrier of the defective
gene)
• Extreme muscle wasting and
degeneration throughout the body.
• Caused by alterations of protein called
Dystrophin (keeps muscles being intact).
 Clinical Manifestations
• Occurs immediately during childhood (3-4yrs
old)
• Muscle wasting starts form proximal muscles
(resp. accessory muscles, back muscles, arms,
thighs)
– Weak cough
– ARF type 2 (in very late stage)
– Lumbar lordosis
– Scoliosis
• Muscle wasting progression to extremities
(hands and feet) as most patients become
wheelchair bound by approx. 10 years old.
 Becker Muscular Dystrophy
• The same as your Duchenne’s Muscular
Dystrophy but the only difference is that
dystophin levels in Duchenne’s were absent
while Becker’s have 10%-40% dystrophin
levels in the system so therefore, Becker’s
Musclar Dystrophy has slow progression
compared to Duchenne’s.
 Diagnosis
• Western Blot Test- for muscular disorders and
dystrophies that is used to detect a specific
protein molecules from the mixture of
proteins. (DMD’s case there is a lack of
dystophin or severely decreased to 10%
below)
 Differentiation
DMD
• Onset: 3-4 years old
• Life expectancy: Teenage
(10-20 yrs)
• Dystophin is absent;
sometimes lower than 10%
• Progression: Rapid
• Ambulation: 8-11 years old
BMD
• Onset: 6-15 years and
beyond
• Life expectancy: Adulthood
(30-40 yrs)
• Dystrophin levels are 50%
below
• Progression: Slow
• Ambulation: 20-23 years old
Myotonic Muscular Dystophy
• Inhibits the function of Myosin Phosphatase
(protein).
• It is an Autosomal Dominant genetic disease
that causes delay muscle relaxation after
contraction. (Ex: after making a fist, it takes
time for you to reopen it)
• Since it has a slow progression it usually
affects adults rather than children.
• Clinical Manifestation shows weakness and
decrease muscle build up in distal parts of the
body.
• It can slowly progress to other involuntary
muscles (smooth muscles) heart, muscles of
digestive system. (late stage)
 Types of Myotonic Dystrophy
Steinert’s Disease
(type 1)
• Defective gene is located on the long
arm of Chromosome 19 that is also
known as DMPK gene.
• DMPK (dystrophia myotonica protein
kinase)
– Is important for skeletal muscle
structure maintenance and function.
– Plays an important role in both
voluntary muscles and involuntary
muscles.
– Shuts off or inhibits the part of muscle
protein called myosin phosphatase
(contraction and relaxation).
• 2 forms (congenital and adult form)
Proximal Myotonic Myopathy (PROMM)
(type 2)
• Defective gene is located on the long
arm of Chromosome 3 (CNBP)
• CNBP (cellular nucleic binding protein)-
is a nucleic binding protein that can be
found in many tissues and most
abundant in heart muscle, and
voluntary muscles. Also serves as a
blueprint in making new proteins. So if
the body attempts to repair the
damaged tissue it serves as the guide to
cellular replication.
• Milder than type 1
• Present during adulthood (slow
progressing)
Chromosomes has 23 pairs
 Short Recap of DNA and RNA
DNA (deoxyribonucleic acid)
• Double stranded
• Composed of Cytosine,
Guanine, Adenine, Thymine
• Located at the nucleus and
mitochondria
• Carries the genetic
information (genome)
sequence of a certain being.
• Can replicates on its own
RNA (ribonucleic acid)
• Single stranded
• Composed of Cytosine, Guanine,
Adenine, Uracil
• Located at cytoplasm, nucleus and
ribosome
• Transmission of genetic code that is
necessary for protein creation.
• Cannot replicate on its own and must
be synthesized by the DNA
• Main role: act as the messenger
receiving instructions from the DNA for
controlling protein synthesis.
• Storage of the blueprint
Normal Pattern of Cell Replication
DNA Genome Sequence Code: 1llll0l0llll

Transcripted (mRNA)

Saved by RNA (1llll0l0llll)

Parang nag
Transmission of Code “Kagebunshin” ang
cells.
Protein Synthesis (1llll0l0llll)

Healthy Neoplasms (new regenerated cells)

Parang Ganito Lang Yan….
DNA (is your intelligent classmate)

RNA (you) copied answers from scantron

Passed the answer to your other bopol

classmates

Teacher gets your answers and evaluates

the data

Congrats you all got a perfect score

Abnormal Pattern of Cell Replication
DNA Genome Sequence Code: 1llll0l0llll

Transcripted (mRNA)

Saved by RNA: llll0l0llll1

Transmission of Code

Protein Synthesis (llll0l0llll1)

Defective Neoplasms

Cancerous Other body malformation

- Benign Non-cancerous
and malfunctioning
- Malignant - Fibrotic
- Depending on the gene
defect

Genome will spread throughout the body replacing defective genome sequence
Parang Ganito Lang ….
DNA (is your intelligent classmate)

RNA (you) copied answers from scantron (wrong pattern was copied)

Passed the answer to your other bopol

classmates

Teacher gets your answers and evaluates

the data

Congrats the majority of the class failed the exam

 Clinical Manifestations
• Myotonia and weakness
• Cardiomyopathy
• Eye cataracts
• Apnea (central, obstructive)
• Dysphagia
• Constipation
• Weakens immune system
 Diagnosis
• Southern Blot Test- detects specific DNA
sequence. (gene discovery, mapping,
evolution, diagnostics)
• Northern Blot Test- detects specific RNA
sequence.
• ECG (heart activity)
 Inflammatory Myopathies
Polymyositis
• Cause: Autoimmunity
• Cell mediated immunity
• Proximal muscle weakness
and muscle inflammation
• CD8+ (cytotoxic cells) and T-
cells (police cells) attacks
the muscles causing
damage to it, but no skin
abnormal manifestations.
Dermatomyositis
• Cause: Autoimmunity
• Humoral Immunity
• Proximal muscle weakness and
muscle inflammation
• B-cells and CD4 immune
complexes leading to
perifascicular and vascular
abnormalities.
• More worse than the
polymyositis as it also attacks
ths skin tissues.
 Polymositis Dermatomyositis

Affected muscles: neck, shoulder, pelvic Affected muscles: neck, shoulder, pelvic
muscles, back, pharynx, flexor regions muscles, back, pharynx, flexor regions
(difficulty walking upstairs, sitting, (difficulty walking upstairs, sitting,
reaching objects above the head) reaching objects above the head)
 Polymositis Dermatomyositis
• Diagnostic tests • Diagnostic tests
– Creatine Kinase (elevated)
– Electromygraphy (abnormal electric
– The same as the polymyositis
signaling) • Mainstay Drugs
– Muscle biopsy – perimysial and
endomysial mononuclear cell infiltrates, – Steroids
necrobiosis, variation in myofiber – Immunosuppressive drugs
diameter and increased perimysial and
endomysial connective tissues.
– ANA test – is an antinuclear antibody test
primarily to help evaluate a person for
autoimmune disorders that affects many
tissues and organs throughout the body.
• Mainstay Drugs
– Steroids
– Immunosuppressive drugs
 Distinct Features of Dermatomyositis

Heliotrope Rash Gottron’s Papule/Gottron’s Sign

• Reddish purple rash around
the eyelids
• Flat-topped erythematous to
violaceous papules and plaques
found over the bony prominences,
particularly the metacarpophalangeal
joints, proximal interphalangeal joints
and distal interphalangeal joints.
 Shawl Sign V-Sign
• A widespread, flat reddened • Reddened round neck
area that appears on the
upper back, shoulders and
back of the neck.
 Holster Sign Periungual Erythema
• Rashes on lateral thighs • Erhythema around the nails
 Calcinosis Cutis
• Accumulation of calcium
salt crystals in your skin
 Management
• Reverse Isolation (protective isolation)-
intended for this patient as they have taken
immunosuppressive drugs thus, it weakens
their immune system and may acquire
infectious diseases from the visitors acquainted.
• Manage Respiratory Symptoms (if the
degenerative disease reaches respiratory
muscles, it may decrease thoracic compliance
that results to decrease lung expansion)