Musculoskeletal

Disorders
Jason Taylor MSc

ZOOL‐2074

The musculoskeletal system forms the framework for the body, supports and protects organs, and
allows for movement. Damage to this system is likely to cause pain and immobility.
Musculoskeletal disorders may be acute or chronic. Often, these conditions are easily treatable
(e.g., sprains, strains, and fractures). Other conditions result in chronic pain and disability (e.g.,
osteoporosis, osteoarthritis, and fibromyalgia). These disorders can be categorized based on cause
and include congenital disorders, traumatic injuries, metabolic disorders, inflammatory joint
disorders, chronic muscle disorders, and tumours.

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 Congenital MSK disorders Inflammatory joint disorders
Lecture Kyphosis, lordosis, scoliosis Osteoarthritis
Developmental hip dysplasia Rheumatoid arthritis
Topics Osteogenesis imperfecta Gout
Ankylosing spondylitis
Traumatic MKS injuries
Bone fracture Chronic muscle disorders
Joint dislocation Muscular dystrophy
Strains and sprains Fibromyalgia
Herniated disc
Bone tumours
Metabolic bone disorders Osteochondroma
Osteoporosis Osteosarcoma
Rickets and osteomalacia Chondrosarcoma
Paget disease

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 CONGENITAL
MUSCULOSKELETAL
DISORDERS

Musculoskeletal disorders

Congenital musculoskeletal disorders may be apparent at birth or may develop during childhood.
These disorders require early treatment to prevent progression and complications.

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 Kyphosis and Lordosis

Usually appear during

adolescent during growth
spurts
CONVEX

Muscular growth < skeletal

growth  poor skeletal
CONCAVE support

Non‐congenital forms in adults

secondary to other conditions

Kyphosis (hunchback) refers to increased convexity of the thoracic spine. In affected children, it
usually appears during adolescent growth spurts when muscular development is slower than
skeletal growth, resulting in inadequate skeletal support and increased thoracic spine convexity. In
adults, non‐congenital kyphosis may develop secondary to osteoporosis, spinal arthritis, or injury.
Severe kyphosis can impair lung expansion and ventilation.

Lordosis (swayback) refers to increased concavity of the lumbar spine. Like kyphosis, lordosis may
develop during adolescent growth spurts. Pathogenesis of lordosis is like kyphosis. In adults, non‐
congenital lordosis may develop secondary to any condition that alters the center of gravity (e.g.,
obesity, pregnancy).

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 Scoliosis

Lateral deviation of T/L spine

May also include vertebral rotation

Usually appear during adolescent during

growth spurts
May present with kyphosis/lordosis

More common in females

Complications d/t structural changes in

vertebral column and ribcage

Scoliosis refers to lateral deviation of the thoracic spine, lumbar spine, or both. Scoliosis may also
include rotation of the vertebrae on their axis. It usually appears during adolescent growth spurts
when stress on the vertebrae causes imbalanced osteoclast activity resulting in spinal deviation and
vertebral rotation. and curvature of the spine. Scoliosis may also be associated with kyphosis and
lordosis.

Scoliosis varies in severity and is more common in females. Clinical manifestations depend on the
disorder’s severity and include uneven shoulders and hips, abnormal gait, abnormal ribcage shape,
and back pain.

Complications of scoliosis include rib and vertebral fusion, pulmonary compromise, chronic pain,
spinal arthritis, intervertebral disk disease, and sciatica.

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 Developmental Dysplasia of the Hip

Maldevelopment of femoral head and

acetabulum  unstable hip joint

Prone to dislocation

More common in girls, firstborns, breech

births, families with history

May be uni‐ or bilateral

Developmental dysplasia of the hip (DDH) occurs when the femoral head and acetabulum do not
develop and articulate correctly. Bone misalignment and loosening of hip ligaments results in an
unstable hip joint prone to dislocation.
DDH is more common in girls, firstborn children, babies born in the breech position, and in families
with a history of developmental dysplasia of the hip. DDH may be unilateral or bilateral.
Clinical manifestations of DDH may differ according to age. Some newborns and infants may
present with no symptoms. Others may have legs of unequal length or asymmetric skin folds
around the groin. Older children may present with painless limping and a waddling gait.
DDH complications include shortening of the affected leg, abnormal gait, chronic hip pain, and
arthritis.

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 Osteogenesis Imperfecta

Inherited collagen disorder

Caused by COL1 gene mutation

Results in fragile bones that break

easily

Mild  severe (fatal) forms

Can also affect ears, heart, and

teeth

Osteogenesis imperfecta (OI, brittle bone disease) is an inherited collagen disorder which results in
the formation of fragile bones that break easily. There are four main types of osteogenesis
imperfecta:
• Type 1 OI – mildest and most common; affected individuals often live relatively normal lives
• Type 2 OI – most severe form; it is lethal
• Type 3 OI – most severe nonlethal form; affected individuals have severe bone deformities
• Type 4 OI – moderately severe with a high survival rate
Most cases of osteogenesis imperfecta are due to mutation of COL1A1 or COL1A2 genes, which
code for type 1 procollagen protein. The defective gene is usually inherited in an autosomal
dominant pattern. In addition to bone deformity, abnormal collagen production can lead to hearing
loss, heart valve malformation, and abnormal tooth development.
Clinical manifestations of OI depend on the type. Common manifestations include multiple bone
fractures and deformities, loose joints, weak teeth, and bowed legs and arms.
Complications of OI include hearing loss, heart failure, and permanent MSK deformities.

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 TRAUMATIC
MUSCULOSKELETAL INJURIES

Musculoskeletal disorders

Traumatic musculoskeletal injuries are usually mild and easily treatable. Occasionally, MSK trauma
can result in life threatening complications like fat embolism and osteomyelitis. Many traumatic
MSK injuries are caused by events that lead to traumatic brain and spinal cord injuries (e.g., falls
and motor vehicle accidents). As a result, neurologic injury may occur in conjunction with MSK
injury.

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 Bone Fracture

A break in bone continuity

Most common in boys/young men

and older adults

Most due to trauma

Others occur to bone‐weakening
conditions

Fracture is a break in a bone’s rigid structure because of applied pressure. Bone fracture is the most
common type of traumatic musculoskeletal injury. Most fractures are due to falls, motor vehicle
accidents, and sports injuries. Additionally, fractures can occur secondary to conditions that weaken
bone (e.g., osteoporosis, Paget disease, and bone cancer).

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 Types of Bone Fracture

Terms used to describe fractures include:

Type of Fracture Definition

Complete Bone is broken entirely
Incomplete Bone is damaged but still in one piece
Closed (simple) Broken ends of bone do not break the skin
Open (compound) Broken ends of bone protrude through the skin; increased risk of
infection
Comminuted Bone is broken into multiple fragments; the term comminuted means
“crumbled together”
Impacted One end of the fractured bone is forcefully driven into the interior of
the other; more likely to occur in the shaft of a long bone
Avulsion Fragment of bone connected to a ligament or tendon detaches from
main bone
Compression Bone is squeezed into a wedge‐shape; most likely to occur in vertebral
bodies
Greenstick One side of the bone is broken and the other only bent like the way a
green twig breaks on one side while the other side stays whole; occurs
in children, whose long bones are not fully ossified and thus more
flexible

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 Fracture Repair

The pathogenesis of bone fracture is really about fracture repair. Fracture healing is a complex
process that can take more than a year to complete:
1. A fracture hematoma (blood clot) forms around the fracture site.
2. Fibroblasts and chondroblasts invade the fracture hematoma and form a soft fibrous cartilage
callus bridging the broken ends of the bone. This process usually takes 2‐6 weeks.
3. Osteoblasts convert the fibrous cartilage callus into a bony callus. This process usually takes 4‐
6 weeks.
4. The bony callus is remodelled by osteoclasts into mature bone resembling the original
unbroken bone. This process may take as long as a year.

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 Factors that Influence Fracture Repair

Age

Activity Drugs
Bone
Healing

Nutrition Smoking

Factors that influence fracture repair include age, medication and drug use, nutrition, and activity.
Healing tends to take longer in older adults than younger adults or children. Steroids,
immunosuppressive drugs, and nicotine can inhibit healing. Adequate nutrition, especially calcium
intake, assists in bone healing. After bone has healed sufficiently, weigh‐bearing activities build
bone strength.

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 Clinical Manifestations of Bone Fracture

Clinical manifestations of bone fracture include deformity, swelling and immobility, crepitus (grating
sound or sensation, usually occurring with movement), pain and paresthesia, and muscle flaccidity
progressing to spasm.

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 Complications of Bone Fracture

Compartment syndrome is an orthopedic emergency

Multiple complications can result from fractures. Poor nutrition, inadequate blood supply,
malalignment, or premature weight bearing can cause delayed union, malunion, or nonunion.
Other fracture complications may include compartment syndrome, fat embolism, osteomyelitis,
and osteonecrosis.
Complication Description
Delayed union Healing of a bone in an incorrect position.
Malunion Failure to form a bony callus within a normal period.
Nonunion Failure to convert a fibrous cartilage callus into a bony callus.
Compartment A serious condition resulting from increased pressure within a limb
syndrome compartment, usually in the lower leg. Blood vessel impingement leads
to tissue necrosis. Clinical manifestations include excruciating pain, limb
pallor and pulselessness and paresthesia. Compartment syndrome
requires prompt identification and treatment to prevent permanent
tissue damage.
Fat embolism Occurs when fat droplets from the fracture site enter the circulatory
system and are deposited in the skin, lungs, or brain. Femoral or pelvic
fractures have a higher risk of developing this complication.
Osteomyelitis A bacterial infection of bone tissue, often caused by Staphylococcus
aureus. Open fracture significantly increases the risk of this serious
complication, which can take months to resolve, delay healing, and result
in osteonecrosis.
Osteonecrosis Death of bone tissue due to a loss of blood supply to that tissue.

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 Joint Dislocation

Separation of bones in a joint

‐ Complete
‐ Subluxed

Shoulder and AC joint most common

Usually d/t trauma

May also be
‐ Congenital
‐ Secondary to another condition

Dislocation refers to the separation of the bones within a joint. It usually follows a severe trauma
that disrupts stabilizing joint ligaments. Dislocation may be complete or partial (subluxation) and
occur most often in the shoulder and clavicular joints. Dislocation causes joint deformity and
immobility and may damage nearby ligaments, blood vessels, and nerves.
Dislocation is usually the result of trauma (e.g., fall, blow, or motor vehicle accident) but may also
be congenital (e.g., DDH) or pathologic (e.g., arthritis, paralysis, and neuromuscular disease).
Clinical manifestations of dislocation include pain (especially with movement or weight bearing),
deformity, bruising, swelling, paresthesia, and limited movement.

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 Strains and Sprains

Strain = muscle/tendon

Sprain = ligament

Manifestations similar for both

A strain is an overstretching injury of a muscle or its tendon. Strains often occur in the lower back,
neck, and shoulder. Severe strains can tear a muscle or its tendon and even avulse a tendon from its
bony attachment. Pain, stiffness, and swelling are common manifestations of strain injury.

A sprain is an overstretching injury of a ligament. Any joint may be sprained, but the ankle joint is
most involved. Severe sprains cause ligament tears and even avulsion. Sprain manifestations
resemble those observed in strains but subside more slowly. Often, severe sprains present with
bruising, disability, and limited joint movement.

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 Herniated Intervertebral Disc

When nucleus pulposus protrudes

through annulus fibrosis

May compress spinal nerve/cord

Caused by overuse/trauma
Increased risk with obesity/bone
degeneration Nucleus
pulposus

Annulus
Manifestations d/t nerve/cord fibrosis
compression

Intervertebral disc herniation (slipped or ruptured disc) occurs when the nucleus pulposus (the inner
gelatinous component of an intervertebral disc) protrudes through the annulus fibrosis (the tough
outer covering of the disc) into the extradural space surrounding the spinal cord. Herniation may
occur suddenly or gradually. Depending on the location of injury, disc compression of the spinal
cord may result in sensory, motor, or autonomic dysfunction. Prolonged or severe cord compression
may lead to permanent neurologic damage. Lumbosacral discs are most frequently involved. may
be impaired depending on the location of injury.
Disc herniation is caused by lifting heavy objects, repetitive use, or trauma. Obesity and bone
degeneration due to aging or metabolic bone disorders (e.g., osteoporosis) increase the risk of
herniation.
Herniated discs may be asymptomatic. When present, manifestations may include sciatica, low back
or leg pain and paresthesia, muscle weakness, and limited mobility.

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 METABOLIC BONE
DISORDERS

Musculoskeletal disorders

Metabolic bone disorders include bone conditions associated with mineral abnormalities. These
abnormalities may be caused by genetic factors, medications, or dietary deficits. If left untreated,
metabolic bone disorders can lead to significant complications (e.g., electrolyte imbalance and
increased fracture risk).

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 Osteoporosis

Characterized by
progressive bone loss

4X more common in
women

D/t disrupted bone

homeostasis

Normal Osteoporosis

Osteoporosis is a condition of progressive bone tissue loss, leaving bones brittle and vulnerable to
fracture. It is the most common metabolic bone disease, affecting about 1.4 million Canadians.
Osteoporosis is four times more common in women.
Osteoporosis is due to disrupted bone homeostasis ‐ when bone resorption (conducted by
osteoclasts) outpaces bone deposition (conducted by osteoblasts), bone tissue weakens.

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 Risk Factors for Osteoporosis

Age

Drugs Ethnicity

Activity
OP History

Nutrition Hormones

Risk factors for osteoporosis include:

• Age over 60 years
• Caucasian or Asian descent
• Family history of osteoporosis
• Estrogen or testosterone deficiency
• Inadequate intake of vitamin D or calcium
• Physical inactivity
• High alcohol or caffeine consumption
• Tobacco use
• Drugs that lower serum calcium levels

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 Types of Osteoporosis

Primary Osteoporosis Secondary Osteoporosis

Age related Complication of certain diseases
‐ CKD
Main subtypes: ‐ Hyperparathyroidism
1. Postmenopausal ‐ Hypercortisolism
↓E → ↑bone resorp on ‐ Ankylosing spondylitis
‐ Affects women
Side‐effect of certain drugs
1. Senile ‐ Corticosteroids
‐ less common ‐ Heparin
‐ Affects men and women

Osteoporosis occurs as a primary (nearly all cases) or secondary condition.

Primary osteoporosis is an age‐related disorder usually associated with decreased estrogen or

testosterone. The most common example of this type is postmenopausal osteoporosis. In 10‐20% of
postmenopausal women, decreased blood estrogen leads to increased bone resorption. Senile
osteoporosis, while less common, affects both men and women, typically over the age of 70. Its
exact cause is unknown but does not appear related to decreased estrogen.

Secondary osteoporosis is attributable to certain diseases (e.g., chronic kidney disease,

hyperparathyroidism, hypercortisolism, and ankylosing spondylitis) and use of certain drugs (e.g.,
corticosteroids and heparin).

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 Pathogenesis of Postmenopausal
Osteoporosis
Normal: ↑ E → ↑ OPG and ↓ RANKL → ↑ Osteoblast ac vity and ↓ Osteoclast ac vity

Abnormal: ↓ E → ↓ OPG and ↑ RANKL → ↓ Osteoblast ac vity and ↑ Osteoclast ac vity

Pathogenesis of osteoporosis involves changes in production of cytokines that regulate bone

remodelling.
Pathogenesis of postmenopausal osteoporosis
Normally, estrogen promotes bone formation and inhibit bone resorption by:
• Stimulating production of OPG, a cytokine that inhibits osteoclast activity
• Inhibiting production of RANKL, a cytokine that stimulates osteoclasts
• Promoting osteoblast survival
• Inhibiting osteoclast survival

Estrogen’s net effect on bone tissue is to inhibit bone resorption and promote bone deposition.
After menopause, estrogen deficiency results in increased bone resorption and decreased bone
deposition.

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 Pathogenesis of Glucocorticoid‐
induced Osteoporosis

↓ Cor sol → ↓ OPG and ↑ RANKL → ↓ Osteoblast ac vity and ↑ Osteoclast ac vity

Pathogenesis of osteoporosis involves changes in production of cytokines that regulate bone

remodelling.

Pathogenesis of glucocorticoid‐induced osteoporosis

Glucocorticoid‐induced osteoporosis is the most common type of secondary osteoporosis.
Glucocorticoids (e.g., prednisone, cortisone) have the same effect on OPG, RANKL, and bone cells
as low blood estrogen levels:
• Decreased OPG production
• Increased RANKL production
• Decreased osteoblast survival
• Increased osteoclast survival

As with estrogen deficiency, glucocorticoids increase bone resorption and decrease bone
deposition.

Large‐dose heparin treatment may also cause osteoporosis ‐ heparin reduces OPG production.

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The specific manifestations of osteoporosis depend on the bones involved. In fact, osteoporosis is
often asymptomatic until a fracture occurs. The most common manifestations are:
 Osteopenia (bone mass < expected for age, ethnicity, or gender)
 Bone pain or tenderness
 Fractures with little or no trauma
 Low back pain or neck pain
 Kyphosis
 Height reduction over time

Bone fracture is the most common complication of osteoporosis. The hips, wrist, forearms, and
spine are most affected.

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 Rickets and Osteomalacia

Both diseases are a result of

bone demineralization

Rickets = children
Osteomalacia = adults

Osteomalacia more common

Both diseases are characterized

by softened and weakened
bones but NOT degraded bone

Rickets is a softening and weakening of bones in children, usually due to extreme and prolonged
vitamin D, calcium, or phosphate deficiency. In adults, this condition is called osteomalacia.

In both cases, if blood calcium or phosphate levels become too low, these minerals are released
from bone to maintain homeostasis. This shift of minerals out of bone leads to their weakening and
softening.

Rickets and osteomalacia result in poor mineralization but not degradation of bone tissue, which
differentiates these conditions from osteoporosis.

Rickets is relatively rare in Canada. Vitamin D‐induced osteomalacia is more common.

Nursing home residents and the homebound elderly population are at particular risk for vitamin D
deficiency, as these populations typically receive little sun exposure.

In addition, skin synthesis and intestinal absorption of vitamin D decline with age.

Manifestations of rickets and osteomalacia include:

• Skeletal deformities (e.g., bowed legs, kyphosis, lordosis, scoliosis)
• Fractures
• Low back pain and hip pain
Bone fracture is the most common complication of rickets and osteomalacia.

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 Paget Disease

Chronic progressive condition

characterized by high bone turnover
 thickened, but weak bone prone
to fracture and deformity

Exact cause unknown; some

individuals have mutations in
SQSTMI gene

Bone tumours are a serious

complication

Paget disease (osteitis deformans) is a chronic progressive condition characterized by high rates of
bone resorption and bone formation. Excessive bone turnover produces weak and brittle bone
prone to fracture and deformity.
The exact cause of Paget disease is unknown. Approximately 10% of affected individuals have
mutations in the SQSTMI gene resulting in increased RANKL and osteoclast activity. Viral stimulation
of osteoclasts may also cause the disease.
Bone tumours are serious complication of Paget disease.

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 INFLAMMATORY JOINT
DISORDERS

Musculoskeletal disorders

Inflammatory joint disorders include arthritic conditions that are often degenerative in nature.
These conditions are characterized by inflammation, which can be triggered by an autoimmune
response, excessive use, increased physical stress, or injury. Complications of these conditions often
include chronic pain and disability.

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 Osteoarthritis

Progressive inflammatory
degenerative joint disease

Characterized by cartilage loss,

bone deterioration, and bone
spurs

Most common type of arthritis

Weight bearing and frequently

used joints are most affected

Osteoarthritis (OA) is a progressive inflammatory degenerative joint disease characterized by

articular cartilage and bone deterioration. As OA progresses, bony overgrowths develop within the
joint.
Osteoarthritis is the most common type of arthritis, affecting between 3 and 4 million Canadians.
Weight bearing joints such as the knee, vertebral column, and hip are most affected. Frequently
used joints, such as those in the hands, may also be affected.
Osteoarthritis usually occurs secondary to excessive mechanical stress on the joint (e.g., aging,
obesity, overuse, and injury).

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 Pathogenesis of Osteoarthritis

Repeated More
Bone
cartilage Synovitis cartilage and
deterioration
damage bone damage

The pathogenesis of osteoarthritis is loss of articular cartilage, which leads to a cycle of destruction:
• Repeated cartilage damage (e.g., from overuse) triggers chondrocytes to produce less resilient
cartilage, which accelerates cartilage disintegration.
• Eventually, subchondral bone is exposed and damaged. Subchondral cysts and osteophytes (bone
spurs) develop as the bone attempts to remodel itself.
• Pieces of osteophytes and cartilage break off into the synovial cavity which irritate the joint’s
synovial lining (synovitis), resulting in joint inflammation and further joint deterioration.
• As the joint deteriorates, nearby muscles and ligaments may become weakened and loose.
Collectively, these changes lead to narrowing of the joint space, joint instability, stiffness, and pain.
Unlike other inflammatory joint disorders, osteoarthritis is not inflammatory in origin. The
inflammation associated with OA results from tissue irritation.

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Disease onset is gradual and usually begins after the age of 40. The following clinical manifestations often
develop slowly and worsen over time:

• Joint pain that is exacerbated during or after movement or weight bearing

• Joint tenderness with light pressure
• Joint stiffness, especially upon rising in the morning or after a period of inactivity
• Enlarged, hard joints
o Heberden node: joint deformity between a finger’s middle and distal phalanx
o Bouchard node: joint deformity between a finger’s proximal and middle phalanx
• Joint swelling
• Limited joint range of motion
• Crepitus
• Bone spurs

Immobility is a common complication of OA. Joint deformity increases the risk of joint dislocation and bone
spurs may cause nerve compression and, in the case of spinal OA, spinal cord compression.

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 Rheumatoid Arthritis

Systemic, autoimmune disease

characterized by inflammatory joint
destruction
May attack other organs
Shows a pattern of exacerbation and
remission
Risk factors include:
• HLA mutations and T cell abnormalities
• Advancing age
• Smoking
• Female sex

Rheumatoid arthritis (RA) is a systemic, autoimmune disease characterized by inflammatory

destruction of multiple joints. RA may attack other organs such as the skin, heart, lungs, kidneys,
and eyes. Unlike OA, which is progressive, RA shows a pattern of exacerbation and remission.
RA’s exact cause is unknown but is thought to involve genetic susceptibility and environmental
triggers. Risk factors include:
• Family history of human leukocyte antigen (HLA) mutations and T cell abnormalities
• Advancing age ‐ RA most commonly affects adults between age 40 and 60
• Smoking
• Female sex ‐ RA affects females three times more often than males

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 Pathogenesis of Rheumatoid Arthritis

Autoimmune Joint
Synovitis Citrullination
response destruction

The pathogenesis of rheumatoid arthritis is complex. What follows is a simplification of the process:
• Unlike OA, which damages articular cartilage first, RA begins with synovitis. Joint inflammation in
genetically susceptible people results in structural changes to joint tissue collagen. This process,
called citrullination, triggers an autoimmune reaction.
o Macrophages and helper T cells infiltrate the joint and produce cytokines that promote
inflammation (e.g., IL‐6) and stimulate bone tissue destruction (e.g., RANKL).
o Plasma cells release autoantibodies like rheumatoid factor (RF) and anti‐cyclic
citrullinated peptide (anti‐CCP) which further exacerbates inflammation and joint
destruction.
• Joint inflammation causes the synovium to thicken and invade the joint cavity. This tissue, called
pannus, releases enzymes that erode cartilage and bone. Eventually, inflammation spreads to the
fibrous joint capsule and surrounding ligaments and tendons.
• During periods of remission, the joint attempts to heal, Adjacent bones within the joint fuse
together (ankylosis) and cause joint deformity.

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The onset of RA is usually insidious – fatigue, malaise, anorexia, persistent low‐grade fever, weight
loss, and generalized aching and stiffness are common manifestations. As the disease progresses,
joints become swollen, painful, and deformed:
• Swan neck deformity ‐ finger is flexed at the proximal interphalangeal joint
• Boutonniere deformity ‐ finger is flexed at the proximal interphalangeal joint and hyperextended
at the distal interphalangeal joint
• Hammer toe – like swan neck deformity but in the toe
• Flexion contractures of the knees and hips
Loss of joint motion is followed by atrophy of the surrounding muscles, tendons, and ligaments.
Extrasynovial rheumatoid nodules are seen in up to 30% of individuals with RA. Each nodule is a
collection of inflammatory cells and cellular debris from autoimmune attack of tissues.

Extrasynovial nodules account for the systemic complications of RA:

Location of Nodules Systemic Complications

Sclera of the eye Glaucoma
Lungs Pleurisy and pulmonary fibrosis
Heart Valve deformities and pericarditis
Spleen Splenomegaly
Blood vessels Thrombosis, embolism, and infarcts in brain, heart, and kidneys; vascular
insufficiency in hands and fingers (Raynaud phenomenon)

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 Gout

Inflammatory disease resulting from uric

acid deposits in body tissues
Characterized by joint inflammation and
pain

Classified as primary or secondary

Secondary gout is most common

Risk factors for secondary gout:

• Obesity
• Certain diseases
• Alcohol consumption
• Certain medications
• Purine‐rich diet

Gout is an inflammatory disease resulting from deposits of uric acid in tissues and fluids within the
body. It is characterized by joint inflammation and pain.
Gout may be classified as primary or secondary. Primary gout is caused by genetic errors in uric acid
metabolism. Secondary gout is caused by other factors like:
• Obesity
• Certain diseases (e.g., hypertension, diabetes, renal disease, and sickle cell anemia)
• Alcohol consumption (beer and spirits more so than wine)
• Certain medications (e.g., diuretics)
• Purine‐rich diet (e.g., red meat, seafood, and certain vegetables like asparagus and mushrooms)
Secondary gout typically occurs later in life and is more common in males.

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 Pathogenesis of Gout

The body produces uric acid when it breaks down purines. Normally uric acid is excreted by the
kidneys. Gout results from overproduction or, more commonly, underexcretion of uric acid. Over
time, uric acid builds up in the blood and body fluids until it crystallizes and is deposited as tophi in
connective tissues throughout the body. Tophi trigger painful joint inflammation known as gouty
arthritis.

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 Clinical Manifestations of Gout

Gout mostly affects the feet, great toe, ankle, and midfoot. Initially, gout shows periods of
remission and exacerbation. If not treated, however, gout may become unremitting. Clinical
manifestations of gout include:
• intense pain at the affected joints (usually the big toe), frequently at night
• joint warmth, redness, swelling, and tenderness
• fever
• joint deformity and immobility

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 Ankylosing Spondylitis

Progressive inflammatory disorder

affecting SI joints, intervertebral
spaces, and costovertebral joints.

HLA‐B27 gene increases risk

More common in males
Characterized by periods of
remission and exacerbation

Vertebral joints become fused and

immobile

Ankylosing spondylitis (AS) is a progressive inflammatory disorder affecting the sacroiliac joints,
intervertebral spaces, and costovertebral joints. The exact cause of ankylosing spondylitis is
unknown. However, individuals with the HLA‐B27 gene are at significant risk of developing it. AS
occurs more frequently in males than in females and typically appears between 20 and 40 years of
age.
Ankylosing spondylitis is characterized by periods of remission and exacerbation. During remission,
new bone forms to repair inflammatory joint damage. Over time, the vertebral joints become fused
(ankylosed) and immobile. AS begins in the sacroiliac joints and progresses up the spine and the
vertebral column becomes rigid and loses its normal curvature.
Clinical manifestations of ankylosing spondylitis reflect decreased joint mobility. Complications
include kyphosis, osteoporosis, and respiratory compromise due to rib cage fusion.

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 CHRONIC MUSCLE
DISORDERS

Musculoskeletal disorders

Chronic muscle disorders are often progressive and lead to chronic pain, weakness, and paralysis.
Because most of these conditions have no known cure, treatment is often aimed at managing
symptoms.

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 Muscular Dystrophy

Muscular dystrophy (MD) encompasses a group of inherited disorders characterized by skeletal

muscle degeneration. MD is caused by a gene defect that results in the production of an abnormal
muscle protein (dystrophin). This defect causes skeletal muscle dysfunction, weakness, and
inflammation. Over time, skeletal muscle is replaced by fat and scar tissue. Cardiac and smooth
muscle may also be affected.

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 Fibromyalgia

Fibromyalgia is a syndrome predominantly characterized by widespread muscular pain and fatigue.

This disorder affects joints, muscles, tendons, and surrounding tissues. No apparent inflammation
or degeneration is associated with fibromyalgia. Although it's cause remains uncertain, fibromyalgia
may be related to altered patterns of pain transmission in the CNS. Conditions often associated
with fibromyalgia include rheumatoid arthritis, systemic lupus erythematosus, and ankylosing
spondylitis.

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 BONE TUMOURS

Musculoskeletal disorders

Musculoskeletal tumours typically arise from bone as secondary tumours from other cancers.
Primary bone tumours (e.g., a complication of Paget disease) are rare.

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 Types of Bone Tumours

Benign
Osteochondroma

Malignant
Osteosarcoma
Chondrosarcoma
Ewing sarcoma

Bone tumours usually occur in areas of rapid bone growth and are described based on the type of
cell in which they originate:

Type of Tumour Description

Osteochondroma Develops in growth plates; most common benign bone tumour in children
Osteosarcoma Originates in bone cells; most common malignant bone tumour in children
Chondrosarcoma Develops in articular cartilage; most common malignant bone tumour in adults
Ewing sarcoma Malignant bone tumour of unknown origin.; more commonly affects children

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