Muscular Diseases

Question 1

Most serious and most common of the MDs in childhood?

Answer 1

Duchenne Muscular Dystrophy (DMD)

Question 2

Duchenne Muscular Dystrophy (DMD) genetic type?

Answer 2

X-linked inheritance pattern

Question 3

Duchenne Muscular Dystrophy (DMD) is also known as?

Answer 3

pseudohypertrophic muscular dystrophy

Question 4

Onset of DMD?

Answer 4

between ages 3 and 5 years

Question 5

S/S of DMD?

Answer 5

• Progressive muscle weakness, wasting, and contractures
• Calf muscles hypertrophy in most patients
• Loss of independent ambulation by age 9 to 12 years
• Progressive generalized weakness in adolescence
• Death from respiratory or cardiac failure
• GOWER’S SIGN

Question 6

Loss of independent ambulation with DMD occurs at what age?

Answer 6

age 9 to 12 years

Question 7

Death from DMD is due to?

Answer 7

respiratory or cardiac failure

Question 8

Serum CPK and AST levels high are high during what period of DMD?

Answer 8

first 2 years of life, before onset of weakness

Question 9

What happens to Serum CPK and AST levels as muscle deterioration occurs due to DMD?

Answer 9

they diminish

Question 10

Which serum marker levels are high during the first 2 years of life, before onset of weakness due to DMD?

Answer 10

CPK and AST

Question 11

Major complications of DMD include?

Answer 11

• Contractures & disuse atrophy
• Obesity
• Infection
• Respiratory and cardiopulmonary problems-
  
  • may need Respirator, trach

Question 12

DMD: Clinical Manifestations

Answer 12

• Waddling gait, frequent falls, Gower sign
• Lordosis
• Profound muscular atrophy in later stages
• Mild to moderate mental impairment; emotional disturbance common

Question 13

patient that has to use their hands and arms to “walk” up their own body from a squatting position due to lack of hip and thigh muscle strength.

Answer 13

Gower’s sign

Question 14

Gower’s sign

Answer 14

patient that has to use their hands and arms to “walk” up their own body from a squatting position due to lack of hip and thigh muscle strength.

Question 15

Therapeutic Management of DMD

Answer 15

• No tx or cure
• maintain function as long as possible
• maintain good quality of life

Question 16

protein that is critical to the health and survival of the nerve cells in the spinal cord responsible for muscle contraction

Answer 16

Survival Motor Neuron Protein

Question 17

Muscular disorder cause by a defective auto recessive SMN protein?

Answer 17

Spinal Muscular Atrophy (SMA)

Question 18

S/S of SMA?

Answer 18

• Breathing/feeding problems
• Low muscle tone (Hypotonia or floppy baby)
• Poor head control
• Little spontaneous movement
  
  • Tongue fasiculations-twitching
• Progressive weakness moving distal to proximal
• Frequent and increasingly severe respiratory infections
• Nasal speech quality
• Worsening posture

Question 19

Forms of the SMA?

Answer 19

Type I: Occurs in infancy and is most severe
Type II: Also occurs in infancy, although less severe symptoms
Type III: Least severe, symptoms may not occur until age two

Question 20

Prognosis of the SMA?

Answer 20

• Type I: 2-3 years
• Type II: Longer, but death occurs during childhood
• Type III- May survive to early adulthood

Question 21

Diagnostic Tests for SMA?

Answer 21

EMG, MRI of spine, Muscle biopsy, DNA test confirms diagnosis

Question 22

Complications of SMA?

Answer 22

• Aspiration
• Contractures
• Respiratory infections
• Scoliosis
• Pain from immobility and secondary impairments

Question 23

Purpose of PT in tx of SMA?

Answer 23

to prevent contractures in joints and scoliosis

Question 24

Purpose of OT in tx of SMA?

Answer 24

to prevent contractures in upper extremities and for adapting environment for feeding, ADLS, access to writing and art activities

Question 25

Purpose of Speech Therapy in tx of SMA?

Answer 25

for respiratory and feeding issues

Question 26

Secondary Impairments R/T Immobility and Disease Progression of SMA?

Answer 26

- Scoliosis - Hip misalignment - Pain - Joint contractures - Calcium deficiency and osteopenia - Constipation - Respiratory issues - Feeding and nutrition issues (may need G-tube)

Question 27

Condition characterized by chronic inflammation of the synovial membrane leading to joint effusion and eventual erosion, destruction and fibrosis of the articular cartilage?

Answer 27

Juvenile Idiopathic Arthritis (JIA)

Question 28

Juvenile Idiopathic Arthritis (JIA)

Answer 28

Condition is characterized by chronic inflammation of the synovial membrane leading to joint effusion and eventual erosion, destruction and fibrosis of the articular cartilage

Question 29

Cause of JIA is unknown but at least two events are considered necessary:

Answer 29

- Immunogenetic susceptibility | - An external, environmental trigger

Question 30

Clinical Manifestations of JIA?

Answer 30

- Joint swelling, stiffness especially after inactivity and in am, - loss of ROM - joints may be warm to touch & painful to touch - Symptoms increase with stressors - Growth retardation - Uveitis in 8-20%

Question 31

Onse of JIA?

Answer 31

before age 16 years

Question 32

JIA peaks at what age?

Answer 32

1-3 & 8-10 years

Question 33

Pauciarticular onset of JIA?

Answer 33

involves 4 or fewer joints

Question 34

Polyarticular onset of JIA?

Answer 34

involves 5 or more joints

Question 35

S/S of systemic onset of JIA?

Answer 35

high fever, rash, hepatosplenomegaly, pericarditis, pleuritis, lymphadenopath & joint involvement

Question 36

Meds to tx JIA?

Answer 36

NSAIDs, SAARDs, corticosteroids, cytotoxic agents

Question 37

The most common spinal deformity?

Answer 37

Scoliosis

Question 38

3 planes of deformity in Scoliosis?

Answer 38

- Lateral curvature, - spinal rotation - thoracic hypokyphosis

Question 39

average age of onset of Scoliosis?

Answer 39

10 years

Question 40

average age start of puberty in boys?

Answer 40

11-12

Question 41

average age start of puberty in girls?

Answer 41

10-11

Question 42

Therapeutic Management of Scolosis Curves < 10°?

Answer 42

normal, no tx required

Question 43

Therapeutic Management of Scolosis Curves < 20° and not progessing?

Answer 43

no Tx

Question 44

Therapeutic Management of Scolosis Curves < 20°?

Answer 44

- treated with braces or surgery depending on the magnitude, location, type of curve, age and skeletal maturity of child, and any underlying or contributing disease processes

Question 45

How many hours a day is the brace worn in a patient with scoliosis?

Answer 45

16-23 hrs/day

Question 46

condition where the socket is too shallow and the ball (thigh bone) may slip out of the socket, either part of the way or completely?

Answer 46

Developmental Dysplasia of the Hip (DDH)

Question 47

Developmental Dysplasia of the Hip (DDH)

Answer 47

condition where the socket is too shallow and the ball (thigh bone) may slip out of the socket, either part of the way or completely

Question 48

Developmental DDH is more common in males or females, and what ethnicity?

Answer 48

- females | - caucasions

Question 49

Risk factors of developing DDH?

Answer 49

- Low levels of amniotic fluid in the womb - Being the first born - Being female - Breech position during pregnancy, in which the baby's bottom is down - Family history of the disorder - Large birth weight

Question 50

The Barlow and Ortolani tests are done to diagnosis which condition?

Answer 50

Developmental Dysplasia of the Hip (DDH)

Question 51

This procedure dislocates the hip to test or DDH?

Answer 51

Barlow Test

Question 52

This procedure reduces the hip to test or DDH?

Answer 52

Ortolani Test

Question 53

A child affected with DDH and with bilateral dislocations will have what type of gait?

Answer 53

waddling gait

Question 54

What is the Trendelenburg sign?

Answer 54

stand on affected side, unaffected hip goes down (normally goes up)

Question 55

incomplete dislocation with some residual contact between femoral head and acetabulum?

Answer 55

Subluxable

Question 56

Subluxable

Answer 56

The incomplete dislocation with some residual contact between femoral head and acetabulum?

Question 57

What is the Pavlik Harness used for?

Answer 57

used to treat DDH

Question 58

``` Therapeutic Management of DDH (6-18 months)? ```

Answer 58

Traction (e.g Pavlik Harness)

Question 59

``` Therapeutic Management of DDH (after 18 months)? ```

Answer 59

surgical repair and placement in spica cast

Question 60

avascular necrosis of the femoral head (usually unilateral)

Answer 60

Legg-Calve-Perthes Disease

Question 61

Legg-Calve-Perthes Disease

Answer 61

- avascular necrosis of the femoral head (usually unilateral) - Self-limiting, self-healing disease

Question 62

Legg-Calve-Perthes Disease Usually occurs in children ages?

Answer 62

3-12

Question 63

Legg-Calve-Perthes more common in?

Answer 63

males ages 4-8

Question 64

Clinical Manifestations of Legg-Calve-Perthes Disease?

Answer 64

- Mild or intermittent pain in the anterior thigh and a “painless” limp - Decreased abduction and internal rotation

Question 65

Spontaneous displacement of the proximal femoral epiphysis in a posterior and inferior direction

Answer 65

Slipped Femoral Capital Epiphysis

Question 66

Slipped Femoral Capital Epiphysis

Answer 66

Spontaneous displacement of the proximal femoral epiphysis in a posterior and inferior direction

Question 67

When does Slipped Femoral Capital Epiphysis occur?

Answer 67

shortly before or during accelerated growth periods of puberty

Question 68

Causes of Slipped Femoral Capital Epiphysis?

Answer 68

- Usually idiopathic, multifactorial | - hypothyroid, pituitary disorders

Question 69

S/S of Acute SFCE?

Answer 69

severe hip pain with inability to bear weight?

Question 70

S/S of Chronic SFCE?

Answer 70

- able to bear weight and walk with mild limp | - unable to internally rotate leg during an exam

Question 71

Tx of SFCE?

Answer 71

- make patient non-weight bearing followed by surgical repair