Musculoskeletal Disorders Part 1 Flashcards

(85 cards)

0
Q

What is mutated in osteogenesis imperfecta?

A

Type 1 collagen (alpha 1 or alpha 2 chains)

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1
Q

What is another name for osteogenesis imperfecta?

A

Brittle bone disease

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2
Q

What is the frequency of osteogenesis imperfecta?

A

1:20,000 live births

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3
Q

How is type I collagen affected by osteogenesis imperfecta?

A

Premature breakdown of collagen

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4
Q

Osteogenesis imperfecta follows what type of genetic pattern?

A

Autosomal dominant

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5
Q

What is the main location affected by osteogenesis imperfecta?

A

Extracellular matrix (ECM)

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6
Q

What are the specific areas affected by osteogenesis imperfecta?

A

Eyes, inner ear bones, skin, joints, teeth

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7
Q

Osteogenesis imperfecta affecting the inner ear bones can lead to what issue?

A

Deafness

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8
Q

What type of osteogenesis imperfecta results in a normal lifespan nonetheless?

A

Type I

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9
Q

Which type of osteogenesis imperfecta is lethal in utero?

A

Type II

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10
Q

What are the two extreme issues with type II osteogenesis imperfecta?

A

Cerebral hemorrhage and respiratory failure

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11
Q

Why is cerebral hemorrhage common with type II osteogenesis imperfecta?

A

Weak skull

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12
Q

What is the unique effect of osteogenesis imperfecta on the eye?

A

Abnormal collagen of the sclera (choroid) giving a bluish appearance instead of white

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13
Q

With what type of osteogenesis imperfecta does abnormal collagen of the sclera occur?

A

Type I

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14
Q

Multiple fractures, extremity bowing, scoliosis, ligamentous laxity (dislocations), and hearing loss are associated with what musculoskeletal congenital disorder?

A

Osteogenesis imperfecta

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15
Q

What is an important chiropractic note to remember with those with osteogenesis imperfecta?

A

Their bones are extremely fragile (low force adjustments)

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16
Q

The fragility of the bones of patients with osteogenesis imperfecta is a contraindication to what type of adjustments?

A

Extremity adjustments

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17
Q

The zebra stripe sign is associated with what musculoskeletal congenital disorder?

A

Osteogenesis imperfecta

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18
Q

What is the treatment used for children with osteogenesis imperfecta?

A

Bisphosphonates

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19
Q

What is the most common form of dwarfism?

A

Achondroplasia

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20
Q

What are the results of achondroplasia?

A

Decreased cartilage synthesis and decreased growth plate expansion

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21
Q

What location is specifically affected by the decreased cartilage synthesis with achondroplasia?

A

Growth plate

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22
Q

What is the genetic mutation with achondroplasia?

A

Fibroblast growth factor receptor (FGFR3) mutation

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23
Q

What is the result of a FGFR3 mutation in achondroplasia?

A

Inhibition of epiphyseal (growth plate) chondrocytes

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24
Is achondroplasia usually sporadic or inherited?
Sporadic (75%)
25
What is the genetic pattern of achondroplasia?
Autosomal dominant
26
What musculoskeletal congenital condition is accompanied by short proximal extremities, lower extremity bowing, frontal bossing, and mid face hypoplasia (low nasal bridge)?
Achondroplasia
27
What percentage of achondroplasia diagnoses are inherited?
25%
28
What is frontal bossing (as seen in achondroplasia)?
Rounding of the frontal bone
29
What type of dwarfism is primarily endocrine oriented and is more rare than achondroplasia?
Hypopituitary dwarfism
30
What is the frequency of achondroplasia?
1:10,000
31
Spinal issues including hyperlordosis and hyperkyphosis at birth, bullet vertebrae, scoliosis, and spinal stenosis are common among which musculoskeletal genetic disorder?
Achondroplasia
32
What two specific types of spinal stenosis are common among achondroplasia patients?
Foramen magnum stenosis and spinal canal stenosis
33
What is usually the death of those with achondroplasia?
Brain stem compression
34
What is the result with brain stem compression with achondroplasia?
Cardiovascular abnormalities (may be lethal)
35
What type of dwarfism is completely fatal?
Thanatophoric dwarfism
36
What is the frequency of thanatophoric dwarfism?
1:20,000 births
37
Extremely small thorax with shortened long bones leading to perinatal respiratory failure occurs with which musculoskeletal congenital disorder?
Thanatophoric dwarfism
38
What is the unique appearance of the vertebrae in patients who have achondroplasia?
Bullet-shaped
39
What is trident hand that is associated with achondroplasia?
Underdevelopment of the bones in the hands
40
What rare genetic disorder is a result of decreased osteoclast-mediated bone resorption?
Osteopetrosis
41
What type of bone cell is inhibited in osteopetrosis & what is the result of that?
Osteoclasts; osteoblasts therefore overwork and build up extreme bone density leading to increased fractures
42
Why are cranial nerve palsies associated with osteopetrosis?
Foraminal stenosis occurs narrowing the bony canals for the nerves
43
Why is deranged hematopoiesis common with osteopetrosis?
The medullary cavity fills with extra bone due to the decreased osteoclast activity
44
What are some issues that occur when the medullary cavity fills with excess bone in osteopetrosis?
Hepatosplenomegaly, recurrent infections, anemia
45
Why does hepatosplenomegaly occur with osteopetrosis?
The liver and spleen attempt to take over the function of the bone marrow that has been compressed and therefore hypertrophy
46
What is the treatment for osteopetrosis?
Stem cell replacement
47
Erlenmeyer flask deformity is present among which musculoskeletal disorder?
Osteopetrosis
48
What is the most important form of osteopenia?
Osteoporosis
49
What is the general definition of osteoporosis?
Loss of bone mass and increased porosity
50
What is osteopenia?
Reduced bone mineralization
51
At what point does osteopenia become the severe form of osteoporosis?
T score of 2.5 standard deviation (threshold from the norm)
52
What is usually the cause of localized osteoporosis?
Disuse/isolation (example = arm in a cast)
53
What is the most common type of osteoporosis?
Primary
54
When does primary osteoporosis occur?
Postmenopausal, senile (age-related)
55
Neoplasia, hyperparathyroidism, nutrient deficiency, and drug exposure are causes of what which type of osteoporosis?
Secondary
56
Enlargement of what organ is a cause of secondary osteoporosis?
Parathyroid
57
What types of drugs can be a cause of secondary osteoporosis?
Alcohol, smoking, long term corticosteroids
58
Osteoporosis is more likely to affect what kind of bone?
Trabecular (cancellous/spongy) bone
59
How is the cortex of the bone affected by osteoporosis?
Thinned (not completely destroyed)
60
What are specific common locations of fractures as a result of osteoporosis due to these areas possessing increased amounts of trabecular bone?
Vertebral bodies, femoral neck, calcaneus
61
What type of bone cell is less impacted by aging and therefore retains normal activity?
Osteoclasts
62
Beginning in mid-20s, bone loss occurs at what rate?
.5% per year
63
What percentage of postmenopausal women experience an osteoporosis related fracture?
50%
64
What percentage of males (of the same age as postmenopausal women) experience an osteoporosis related fracture?
3%
65
Reduction in what hormone accelerates bone loss as seen in postmenopausal women with osteoporosis?
Estrogens
66
Activity of what substances are decreased in senile osteoporosis?
Growth factors and osteoblasts
67
What is the age of maximum bone density?
Mid adulthood (25 years of age)
68
How can osteoporosis be prevented?
Diet and exercise
69
What types of exercise can help prevent osteoporosis?
Resistance training, athletics, increasing weight load more than overall cycles
70
What supplements may benefit those with or prevent osteoporosis?
Calcium and vitamin D
71
Calcium and vitamin D deficiency are most common among what gender?
Females
72
Who are at risk for osteoporosis?
Older people of both ages, postmenopausal women
73
Osteoporosis is usually asymptomatic, true or false?
True
74
When does osteoporosis become symptomatic?
With skeletal fragility
75
What is the exaggerated forward hunching of those with osteoporosis called that is due to multiple compression fractures?
Dowager's hump
76
What are some concerns following surgery for a femoral neck (hip) fracture?
Pneumonia, deep vein thrombosis, pulmonary embolism (result of disablement)
77
What type of bone cells is affected by the menopausal cause of osteoporosis?
Osteoclasts (increased)
78
What type of bone cells is affected by the aging cause of osteoporosis?
Osteoblasts (decreased synthesis)
79
What hormone is decreased with the menopausal cause of osteoporosis?
Estrogen
80
What is another feature important to consider with the aging cause of osteoporosis besides the reduction in osteoblast synthesis?
General sedentary lifestyle
81
What is the treatment for osteoporosis in females?
Estrogen therapy
82
What are some risk factors with estrogen treatment for osteoporosis?
Deep vein thrombosis (increased blood clots), endometrial cancer, and breast cancer
83
What is the appropriate way of determining osteoporosis?
DEXA scan
84
What are preventative mechanisms for osteoporosis?
Activity, supplements, bisphosphonates