MSK

Question 1

duchenne muscular dystrophy is inherited in what pattern ? mutation and define

Answer 1

X-linked recessive
due to mutation in the dystrophin gene, leading to muscle cell necrosis. progressive weakness from the lower to upper body

Question 2

at what age does duchenne’s muscular dystrophy usually present at? how may it present

Answer 2

2-3 Years
difficulty walking and jumping
also causes learning difficulties

Question 3

what clinical findings may be seen in someone with duchennes muscular dystrophy?

Answer 3

Gowers sign
calf pseudo hypertrophy

Question 4

at 12 years old children with duchenne muscular dystrophy are typically?

Answer 4

chair bound
scoliosis
poor pulmonary function

Question 5

mean life expectancy with duchenne muscular dystrophy? cause of death usually

Answer 5

22 -cardiorespiratory compromise

Question 6

cardiac complication of duchenne muscular dystrophy?

Answer 6

dilated cardiomyopathy

Question 7

diagnosis of duchenne muscular dystrophy?

Answer 7

1. very high plasma creatine kinase
2. definitive diagnosis by genetic analysis (muscle biopsy is generally not needed)

Question 8

management of duchenne muscular dystrophy?

Answer 8

1. MDT approach
2. physiotherapy + splints + steroids (slow down skeletal damage and progression of weakness)
3. surgery for complications such as scoliosis
4. CPAP for advanced disease (respiratory support)

Question 9

inheritance of spinal muscular atrophy? gene involved

Answer 9

autosomal recessive
SMN1 gene (5q13)

Question 10

classification of spinal muscular atrophy?

Answer 10

type 1: most severe, with an onset within the first 6 months, never able to sit, dies before 2
type 2: onset of 6-18 months, able to sit and walk with support and dies after 2 years
type 3: mildest, unveiled onset, deteriorating in the 30s

Question 11

how many an infant present with spinal muscular atrophy? chronic

Answer 11

hypnotic
breathing difficulties
unable to suck or swallow

Question 12

define juvenile idiopathic arthritis ?

Answer 12

defined as arthritis occuring for more than 6 weeks in those younger than 16 years

Question 13

how is juvenile idiopathic arthritis classified?

Answer 13

oligoarthritis
poly arthritis
systemic

Question 14

oligoathritis juvenile idiopathic arthritis is defined as involvement of < … number of joints

Answer 14

5 and is often asymmetric

Question 15

most common joint involved in oligoarthritis idiopathic juvenile arthritis ?

Answer 15

ankle, knee, wrist

Question 16

presentation of poly arthritis idiopathic juvenile arthritis ?

Answer 16

5 or more joints involved and usually symmetric
small and large joints (can involve TMJ and cervical spine

Question 17

what extra-articular manifestation is commonly associated with Oligoarticular juvenile idiopathic arthritis ?

Answer 17

chronic anterior uveitis

Question 18

polyarthritis juvenile idiopathic arthritis can be ….factor positive or negative

Answer 18

rheumatoid

Question 19

Oligoarthritis and poly arthritis juvenile idiopathic arthritis is common diagnosed before the age of ….? and is more common in (sex)

Answer 19

6
females

Question 20

typical age of onset of systemic juvenile idiopathic arthritis ? more common in females or males

Answer 20

1-10
male = female

Question 21

what are systemic features associated with systemic juvenile idiopathic arthritis ?

Answer 21

high grade fever
salmon pink rash macular rash
anemia and raised CRP and ESR
lymphadenopathy and hepatosplenomegaly

Question 22

presentation of systemic juvenile idiopathic arthritis is similar to ? 3

Answer 22

SLE
Kawasakis
rheumatic fever

Question 23

what are 2 other types of junvenile idiopathic arthritis ? (no oligo, poly, systemic)

Answer 23

psoriatic athritis
enthesitis-related arthritis

Question 24

elements of management of juvenile idiopathic arthritis ?

Answer 24

1. MDT approach
2. analgesia
3. NSAIDs
4. joint steroid injections
5. methotrexate for poly arthritis — methotrexate-resistant disease consider biologic agents such as infliximab
6. systemic steroids: for severe disease

Question 25

define rickets disease?

Answer 25

a disease caused by the failure of mineralization of the growing bone (when the same happens in the mature bone, it is called osteomalacia), due to deficiency of vitamin D

Question 26

causes of vitamin D deficiency?

Answer 26

poor sun exposure low dietary intake of vitamin D, calcium, or phosphate malabsorption (CF, celiac, liver disease) defects in processing of vitamin D: chronic liver, renal, falcon syndrome (proximal tubule dysfunction) drugs: Phenobarbital

Question 27

clinical features of rickets ?

Answer 27

craniotabes (softening of the skull) costochondral rachitic rosary wide wrists and ankles Harrison sulcus bowed legs infants may present with seizures from hypocalcemia

Question 28

diagnosis of rickets ?

Answer 28

1. dietary assessment 2. blood tests revealing: decreased calcium, phosphate, and , 25-hydroxyvitamin D. Increased PTH and ALP 3. x-ray of wrists showing cupping (widening)

Question 29

management of rickets ?

Answer 29

1. identify cause, treat and supplement - nutritional rickets: optimize diet and supplement with cholecalciferol - hypophosphatemic rickets: X-linked dominant hereditary disorder which is resistant to vitamin D, supplemented with phosphate and Calcitriol

Question 30

..... Is the most common cause of acute limp in 2-12 years old

Answer 30

transient synovitis

Question 31

features of transient synovitis?

Answer 31

1. decreased range of motion 2. no pain at rest 3. all tests are negative

Question 32

what must be exclude before diagnosing transient synovitis ?

Answer 32

septic arthritis

Question 33

what is the management of transient synovitis ?

Answer 33

rest and NSAIDs

Question 34

presentation of septic arthritis?

Answer 34

1. high fever 2. acutely unwell 3. erythematous tender joint

Question 35

what is the most common organism that causes septic arthritis ?

Answer 35

staph aureus

Question 36

diagnosis of septic arthritis ?

Answer 36

joint aspiration and blood for culture and sensitivity

Question 37

management of septic arthritis ?

Answer 37

depends on the causative organism but generally IV flucloxacillin + gentamicin for 2-4 weeks

Question 38

define perthes disease?

Answer 38

idiopathic avascular necrosis of femoral epiphysis, occurring in 5-10 year olds, more commonly in males

Question 39

presentation of perthes disease?

Answer 39

insidious onset of hip pain associated with activity

Question 40

x-ray findings of perthes disease?

Answer 40

bone x-ray shows increased density of the femoral head early in the disease, progressing to show irregular edges later

Question 41

management of perthes disease?

Answer 41

conservative measures surgical intervention if severe

Question 42

define slipped capital femoral epiphysis ?

Answer 42

femoral head displaces postero-infeeriorly, most commonly in 10-15 year old obese males

Question 43

presentation slipped capital femoral epiphysis ?

Answer 43

acute limp referred to knee with reduced ROM

Question 44

management of slipped capital femoral epiphysis ?

Answer 44

surgical intervention to prevent avascular necrosis

Question 45

genetics of achondroplasia?

Answer 45

50% of cases are autosomal dominant, and 50% are from sporadic mutations

Question 46

features of achondroplasia?

Answer 46

short stature short limbs frontal bossing lumbar lordosis

Question 47

define osteogenesis imperfecta?

Answer 47

a group of disorders of collagen metabolism causing bone fragility, most common is type 1 which is autosomal dominant (type 2 is a severe and lethal form at birth)

Question 48

features of osteogenesis imperfecta?

Answer 48

unexplained fractures, blue sclera, hearing loss in a few (deformity in the ossicles of the middle ear)

Question 49

management of osteogenesis imperfecta

Answer 49

bisphosphonates