week 2 Flashcards
what is Myopathy
Myopathies are disorders of skeletal muscle that affect either the muscle structure, channel, or metabolism.
myopathy signs and symptoms
proximal & symetrical muscle weakness, cramps, stiffness, and pain, muscle enlargement and atrophy
dystrophies
is inherited characterised by degeneration and regeneration
congenital myopathies
inherited. microscopic muscle changes
mitochondiral myopathies
inherited. due to defects in mitochondria
inflammatory myopathies
inherited. autoimmune diseases
metabolic myopathies
which result from defects in biomechanical metabolism affect muscle
drug- induced myopathy/ alcohol myopathy
aquired bc of toxic agents
dermatomyositis
produces weakness and skin changes
polymyositis
inflammation of many muscles
inclusion body myositis
slow progressive disease producing weakness of hand grip and straightening of the knees
muscular dystrophy
umbrella term relating to the progressive skeletal muscle weakness, defects in muscle protein and death of a muscle cell/ tissue
most are multi-system disorder
eg duchenne, becker - no cure
signs and symptoms of duchenne
waddling gait, frequent falls, muscle spasams, inability to walk, calf deformation (progressive muscular wasting, limited ROM, resp difficulties and more
fribomyalgia
muscle and connective tssue pain and debiliating fatigue sleep dfisturbance and joint stiffness
freq occur with psychiatric conditions
myasthenia gravis
autoimmune NM disease. leads to muscle weakness and fatiguability.
weakness caused by antibodies that block acetylcholine receptors
improves after periods of rest
affects predominantly muscles in eyes, facial expression, chewing, talking, and swallowing
myasthenic crisis
a paralysis of the respiratory muscles
Idiopathic Inflammatory Myopathies (IIM)
a heterogeneous group of inflammatory myopathies characterised by immune-mediated muscle injury
Polymyositis & Inclusion Body Myositis type of IIM and clinical features
Involve an inflammatory response mediated by cytotoxic T cells
PM- Defined by proximal muscle weakness and elevated muscle enzymes, but lacks specific autoantibodies
IBM- Presents with both proximal and distal muscle weakness, often with rimmed vacuoles on muscle biopsy
Dermatomyositis type of IIM and Clinical Features
Involves activation of the complement system, leading to vascular destruction and immune cell infiltration.
Characterised by skin manifestations and muscle weakness
Infectious Myositi
Infectious myositis is an infection in the muscle
Osteogenesis Imperfecta
A hereditary bone disease characterised by extreme fragility leading to frequent fractures and other complications
Osteochondroses
A group of conditions related to interrupted blood supply to bones, affecting children eg osgood schlatter disease
Scoliosis
A lateral deviation of the spinal column that can be idiopathic, congenital, or due to neuromuscular disorders. Symptoms include deformity, potential pain, and respiratory issues in severe cases
macrodactyly
digit is larger than surrounding digits
polydactyly
extra digit
syndactyly
webbing of digits
Osteogenesis Imperfecta treatment
bisphosphonates can increase cortical bone width and an increase in bone strength & physiotherapy to strengthen muscles and improve motility w hydro and support cushions
Scheuermann’s Disease:
Results in uneven vertebral growth leading to kyphosis around throacic vertabrae
may have tight hamstrings -> increase lumbar lordosis
Legg-Calve-Perthes Disease
Idiopathic osteonecrotic disease affecting the proximal femoral epiphysis
often short stature
Osgood-Schlatter Disease
Caused by growth imbalances, resulting in knee pain and inflammation
causes tight quads resulting in # to tibial tuberosity
Osgood-Schlatter Disease treatment
cold therapy
limit activity
anti-inflammatory meds
deformities w scoliosis
high shoulder, prominent hip or projecting scapula, usually painless, SOB and GIT distrubances
treatment for scoliosis
brace, surgical, physiotherapy
Pathogenesis of osteogenisis imperfecta
Most OI is due to defects in genes involved in production, folding, stability, processing, and secretion of type 1 collagen, osteoblast function, or bone matrix mineralisation. Specifically, collagen 1 is an essential protein for bones, skin, and connective tissues.
Pathophysiology and stages of legg-calves perthes disease
1 Necrosis: Disruption of the blood supply leads to infarction of the femoral capital epiphysis, particularly the subchondral cortical bone. Subsequently, this leads to a cessation of the growth of the ossific nucleus. The infarcted bone softens and dies.
2 Fragmentation: The body reabsorbs the infarcted bone.
3 Reossification: Osteoblastic activity takes over, and the femoral epiphysis reestablishes.
4 Remodeling: The new femoral head may be enlarged or flattened. It reshapes during growth. Those that respond to conservative treatment will usually show healing in 2 to 4 years
Clinical manifestations of legg- calves-perthes disease
kids w Trendelenburg gait
restricted movement in their hip joints, mainly in the directions of internal rotation and abduction. Pain, if present, is mild and often referred to the anteromedial thigh or knee and associated with functional activities
Aetiology of legg-claves-perthes disease
The cause of LCP disease is not known. It may be idiopathic or due to other aetiology that would disrupt blood flow to the femoral epiphysis
Epidemiology of LCP disease
LCP disease usually occurs between the ages of 3 to 12 years old
Aetiology of osteogenesis impefecta
Osteogenesis imperfecta is a rare genetic disease. In the majority of cases, it occurs secondary to mutations in the COL1A1 and COL1A2 genes
Epidemiology osteogenesis impecfecta
The estimated incidence of OI varies between 1 in 10,000 to 1 in 20,000 live births however, it is possible that some mild forms of OI remain undiagnosed
Clinical manifestations of osteogenesis imperfecta
common: Short stature, bone deformities, and recurrent fractures
less common: dentine abnormalities, altered scleral hue, facial dysmorphism, hearing loss, skin laxity, joint hypermobility, and cardiovascular, neurologic or respiratory manifestations
scoliosis Aetiology
The aetiology is unclear (idiopathic).
A genetic contribution = twin and family history studies.
Non-idiopathic scoliosis include congenital scoliosis (e.g., failure of segmentation or vertebral formation),
neuromuscular scoliosis (e.g., with cerebral palsy, polio, spina bifids)
scoliosis due to metabolic or collagen disorders
Adults: The most common causes are de novo scoliosis (scoliosis associated with degenerative changes)
Epidemiology of sociliosis
Children and adolescents: Scoliosis is a common paediatric condition with a prevalence of 0.47–5.2%
Pathophysiology of scoliosis in children
a spinal deformity characterised by a lateral curvature of 10° based on a posterior-anterior radiological evaluation in a standing position at the age of 10 to 18 years.
The vertebral bodies grow faster than the posterior elements, resulting primarily in a lordosis
Pathophysiology of scoliosis in
Adults: degenerative scoliosis usually begins with asymmetric degeneration of the intervertebral disc and facet joints, which leads to unbalanced loading of the spine
spondylolisthesis
endplate and disc are tilted, a shear force is created which can lead to a shear failure with translation of the upper vertebra “downhill” to the lower vertebra and can lead to associated fractures.
Clinical manifestations of scoliosis
back pain, postural imbalance and/or neurologic deficits e.g., weakeness, numbness.
Untreated, progressive AIS is associated with restrictive lung disease, pain, and severe deformity later in life.
Osteomalacia and Rickets
Normal bone growth and mineralisation require adequate calcium and phosphate, the two major nutritional elements that constitute the crystalline component of bone. Deficient mineralisation can result in rickets and/or osteomalacia.
Rickets Aetiology
deficient mineralisation at the growth plate, which disrupts its architecture
Osteomalacia Aetiology
involves impaired mineralization of the bone matrix
Osteomalacia and Rickets nutritional deficency factors
Vitamin D and calcium deficiency are primary causes; low dietary intake, dark skin pigmentation and low sun exposure and diminished absorption
Osteomalacia and Rickets genetic disorder X-linked hypophosphatemia
rare hereditary disorder causing phosphate wasting and low calcitriol levels
Tumour-Induced Osteomalacia:
Certain tumors secrete FGF23, leading to phosphate loss and bone weakening
Drug-Induced Osteomalacia like what increase risk
Caused by prolonged use of medications like anticonvulsants, bisphosphonates, proton pump inhibitors and some chemotherapy drugs
Epidemiology of osteomaclasia
can result from different aetiologies via mechanisms that result in hypocalcaemia, hypophosphatemia, or inhibition of the mineralisation process. In adults, osteomalacia due to vitamin D deficiency
Epidemiology Rickets
nutritional rickets in Australia, the overall annual incidence in children < 15 years of age was 4.9 per 100,000, mainly immagrant families with dark skin and girls or completely veiled
Pathophysiology Osteomalacia
lack of vit D and or calcium 1) release of calcium and phosphorus from bone stores to raise blood calcium levels; and 2) phosphorus excretion through the kidneys. The net effect in osteomalacia is decreased bone mineralisation, and bone-softening
Pathophysiology Rickets
occurs when the mineralisation of growth plate cartilage is disrupted due to a deficiency of calcium or phosphorus. This deficiency prevents hypertrophic chondrocytes in the primary spongiosa of the growth plate from undergoing apoptosis—an essential process for normal bone development.
clinical manifestations of rickets and osteomalacia
dull/ aching bone pain, altered mobility and or loss of independence, muscle weakness, pathological fractures
Osteopenia def
Osteopenia describes a decrease in bone mineral density (BMD) below normal reference values yet not low enough to meet the diagnostic criteria of osteoporosis
Aetiology of Osteopenia
Genetic factors influence up to 80% of bone mineralisation potential, while modifiable factors such as weight-bearing exercise, adequate calcium and vitamin D intake, body mass and hormonal balance play a crucial role
Age-related bone loss:
natural decline in bone mass with aging
Genetics to bone loss in re to osetopenia
family history of osteopenia increases susceptibility
sex in re to bone loss
women are at higher risk due to hormonal changes
Ethnicity in re to bone loss
higher prevalence in Caucasian and Asian populations
poor diet in re to bone loss
inadequate calcium and vitamin D intake contribute to lower bone density
physical inacvtivity in re to bone loss
reduced weight-bearing activity weakens bones
Lifestyle Choices in re to bone loss
smoking and alcohol consumption negatively affect bone metabolism
Chronic Illnesses in re to bone loss
coeliac disease and IBS resulting in calcium and/or vitamin D deficiencies
Medication Use in re to bone loss
long-term corticosteroid and PPI use accelerates bone loss
Epidemiology Osteopenia
Overall, females have a four-fold higher overall prevalence of osteopenia compared to males. However, males are more likely to demonstrate secondary causes of decreased bone mass. 48% of Australian women aged 60 years have osteopenia.
Pathophysiology of osteopenia
Osteopenia occurs secondary to uncoupling of osteoclast-osteoblast activity, resulting in a decrease in bone mass
Clinical Manifestations of osteopenia
asymptomatic, osteopenia is detected through bone density scans.
Lower Bone Density: Diagnosed via DEXA scan (T-score: -1.0 to -2.5)
Increased Fracture Risk: Although fractures are less common than in osteoporosis, the risk increases over time
Osteoporosis def
is low bone mass, microarchitectural disruption, and skeletal fragility resulting in decreased bone strength and an increased risk of fracture.
Aetiology of osteoporosis
(age related) intrinsic and extrinsic factors, such as mechanical unloading, hormonal imbalances, metabolic changes, cognitive decline, inflammation, and circadian rhythm disruptions.
osteomalacia, malignancy (eg, multiple myeloma), Paget disease of bone, significant weight loss, reduced skeletal loading such as occurs with spinal cord injury, tobacco use and/or excessive alcohol intake, hyperthyroidism, and hyperparathyroidism.
Epidemiology of osteoporosis
3.4% people in Australia have osteoporosis
Pathophysiology of osteoporosis
imbalance in bone remodeling, where bone resorption exceeds bone formation, leading to a net loss in bone mass and deterioration of microarchitecture
Clinical manifestations of osteo porosis
Osteoporosis has no clinical manifestations until there is a fracture.
Osteoarthritis Aetiology
Osteoarthritis (OA) is a complex, multifactorial disease that results from an imbalance between the breakdown and repair of joint tissues.
The major contributors to OA include:
ageing, genetics, Joint Injury and Mechanical Stress, Obesity and Metabolic Factors, Inflammation and Immune Activation, hormonal factors and anatomical factors
Epidemiology of OA
OA is the most common joint disorder, affecting millions of individuals worldwide. Whilst the prevalence of OA increases with age, key epidemiological features also include sex, obestiy, lifestyle/ occupational, comorbities
In Australia the prevalence of arthritis:
was higher for females
mainly affected older people – 49% of those aged 75
highest for people living in inner regional areas c/to major cities
Pathophysiology of OA
biomechanic stress, inflammation, and metabolic dysfunction inc
- Cartilage Degradation
- bone changes
- synovial inflammation
- soft tissue and NM involvement
Clinical Manifestations of OA
pain, jt stiffness, crepitus, reduced ROM, joint deformaties, swelling and synovitis, functional impairment and disability
what is RA
is the most common chronic form of inflammatory arthritis
RA aetiology
chronic, systemic, autoimmune, inflammatory disorder of unknown aetiology that primarily involves synovial joints
Epidemiology of RA
2.0% people in Australia are estimated to be living with RA
Pathophysiology of RA
driven by complex interactions between genetic, environmental and immune system factors, leading to synovial inflammation and joint destruction
Clinical manifestations of RA
morning stiffness greater than 1 hour
jt pain and swelling
jt deformities
RA Extra articular (beyond the joints) features include:
Fatigue and weakness
Anaemia (due to chronic inflammation)
Rheumatoid nodules (firm lumps under the skin, often on elbows)
Eye inflammation
Lung involvement (pleuritis, interstitial lung disease)
Heart issues (pericarditis, increased cardiovascular risk)
Nerve problems (carpal tunnel syndrome, neuropathy)
x-rays use
electromagnetic radiation to create an image, this is bc different structures absorb the x ray beam differently
indications to use x ray is
to diagnose jt and bone related conditions
+ves for X rays
cheap, quick, low risk
-ves for x rays
limited in pathologies, insensitive to low grade changes, interoperation errors
indications for a CT scan
after injuries eg car crash or sporting injury
+ ves for CT
multisystem, allows very detailed images
-ves for CT scans
allergic reaction to ocntrast dye, radiation exposure
DEXA indications
bone mineral content/ density
lumbar spine, prox femur
primarily for osteoporosis
DEXA +ves
low radiation
DEXA -ves
less sensitve than mri
fluoroscopy indications
continuous x ray beam when monitioring moving objects, jt injections, insertion lines, swallow/ digestive assessments
fluoroscopy +ves
diagnostic and interventional
fluoroscopy -ves
use of contrast media
angiography indications
catherter into bv, bv monitioring, images recorded
angiography +ves
info abt bv abnormalities
angiography -ves
contrast medium, haematoma at catherter site
MRI indications
tumors, magnetic feild and raio waves
Mri +ves
detailed pic, no x ray radiation
mri -ves
physical harm (metal implants)
contrast dye
loud knocking or ringing noises
claustrophobia
ultrasonography indications
internal body sturctures eg pelvic and ab organs
probe that emits ultrasound waves and detect echo back
ultrasonography +ves
versotole and dynamic
ultrasonography -ves
user and equipment dependent
poor transmission
nuclear medication indications
injury or disease eg cancer
improvment in bone abnormality after treatment
nuclear medication +ves
very detailed image
nuclear medication -ves
radiation
PET scan indications
dx and rx variety of heart or cancer diseases
PET scan +ves
details function and anatomy of body structure
reduced need for exploartory surgery
PET scan -ves
low radiation exposure
allergic reaction to radiotracer
