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(3) Pediatric Rehabilitation > S3L2 : Muscular Dystrophies, Hydrocephalus, Chromosomal anomalies > Flashcards

S3L2 : Muscular Dystrophies, Hydrocephalus, Chromosomal anomalies Flashcards

1
Q

Clinical characteristics of DMD

A
  • Hypertrophy of claves
  • Progressive weakness
  • Intellectual impairment
  • Proliferation of connective tissue in muscles
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2
Q

T/F IN DMD,
- Fair head control: first sign of weakness
- Gower’s sign - evident at 2 y/o ; Prone –> Sitting

A

FF

Poor head control: first sign of weakness

Gower’s sign - evident at 3 y/o ; Prone –> Sitting

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3
Q

AGE OF ONSET OF DMD

A

3-5 y/o

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4
Q

Identify the wrong statement in DMD

  • MAY SHOW SOME DEGREE OF WEAKNESS
  • (+) GOWER’S SIGN
  • WEAKNESS: LE> UE: GMAX
  • CONTRACTURE: UE > LE PROXIMAL –> DISTAL
A

CONTRACTURE: LE > UE DISTAL –> PROXIMAL

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5
Q

Life expectancy of DMD

A

18-25 y/o

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6
Q

Suggested PT goals except
A. Maintain and/or Improve Flexibility
B. Improve Endurance and Breathing
C. Teach Wheelchair mobility activities
D. Improve Respiratory Hygiene
E. None

A

E

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7
Q

The ff. Are true in age 10-12 y/o, except
A. WHEEL CHAIR BOUND: MOTORIZED, JOYSTICK
B. DEVELOP SCOLIOSIS –> RESTRICTIVE LUNG DISEASE
C. PRONE TO APNEA –> BIPAP / CPA
D. None

A

D

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8
Q

T/F you can give mechanical resistive exercises to DMD pts.

A

F

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9
Q

Identify the muscular dystrophy

  • Lack of dystrophin
  • Milder form
A

Becker’s muscular dystrophy

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10
Q

Identify the muscular dystrophy

  • X-linked recessive progressive dystrophic myopathy with gene locus Xp28.
  • Deficient protein: Emerin
A

Emery dreifus muscular dystrophy

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11
Q

Identify the wrong statement in DMD

Age of onset: 3-5 y/o

Age of survival: 18-25 y/o

Contractures: early onset

Scoliosis: slower

MR: (+)

A

Scoliosis: faster

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12
Q

Identify the wrong statement in BMD

Age of onset: 10-20 y/o

Age of survival: mid-adult

Contractures: late onset

Scoliosis: slower

MR: (-)

A

Age of onset: 10-15 y/o

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13
Q

T/F. Emery dreifus muscular dystrophy Presents with:
- selective scapulohumeral peroneal distribution weakness
- striking wasting of the biceps
- sparing of the deltoids

A

False

NOTE: FA is spared along with deltoids

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14
Q

T/F. Etiology of emery dreifus MD includes
* X-linked recessive (Xq28)
* Autosomal dominance (1q)

A

T

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15
Q

Clinical manifestations of Emery dreifus MD include, except:
Onset: 5-15 y/o
(+) contractures of elbow & knee
(+) scapulohumeroperoneal muscle wasting
(+) normal intellectual function
(-) severe cardiomyopathy
Hypertrophy of muscles
Facial weakness
Myotonia

A

(+) severe cardiomyopathy

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16
Q

Lab findings of Emery dreifus MD

A

Serum CK: mildly elevated

Muscle biopsy

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17
Q

Prognosis of Emery dreifus MD

A

Slow progression

Most survive to late adult

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18
Q

Management of Emery dreifus MD

A

Supportive treatments

Special attention to cardiac conduction defects

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19
Q

Identify the muscular dystrophy

Symptoms are apparent during late school-age or adolescent period, about 10 years of age.

M=F

affects the muscles of the face and shoulder

A

Fascioscapulohumeral muscular dystrophy

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20
Q

Identify the muscular dystrophy

Clinical features

  • Less common
    1:30,000 live male birth
  • Less severe
  • Family history: atypical MD
  • Similar & less severe than DMD
  • Onset: age > 7 yrs.
  • Pseudohypertrophy of calf
  • Equinus & varus foot
  • High rate of scoliosis
  • Less frequent cardiac involvement
A

Limb girdle muscular dystrophy

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21
Q

Identify the muscular dystrophy

AKA: STEINERT’S DISEASE CLINICAL

A

Myotonic muscular dystrophy

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22
Q

Identify the muscular dystrophy

AKA: SWARTZ-JAMPEL

A

Myotonic chondrodystrophy

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23
Q

Identify the muscular dystrophy

AKA: Thomsen’s disease ; Infantile Hercules

A

Myotonic congenita

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24
Q

The predominant manifestation of Fascioscapulohumeral muscular dystrophy is being unable to:

A
  • whistle and wrinkle his or her forehead,
  • close eyes tightly
  • and raise arms.
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25
Q

Clinical HALLMARK of myotonic muscular dystrophy

A
  • Round, thin cheeks
  • increase temporal concavities
  • Inverted V-lip characteristics
26
Q

Clinical HALLMARK of myotonic chondrodystrophy

A
  • Generalized muscle hypertophy and wekaness
  • Dwarfism
27
Q

Clinical HALLMARK of myotonic congenita

A
  • Generalized muscle hypertophy and wekaness
  • Normal growth spurt
28
Q

T/F. PT treatment for muscular dystrophy includes:
1.Exercise, including range of motion, strengthening and cardiovascular (aerobic) exercise, is important for the management of the musculoskeletal and cardiorespiratory manifestations of myotonic dystrophy

2.Strengthening exercises may help to minimize the disuse weakness; but there is also a concern that too much exercise or inappropriate exercise may hasten disease progression, and hence 􏰀finding the right balance for each individual is important.

3.Cardiovascular exercise performed at a low to moderate intensity has been found to be safe in people with myotonic dystrophy

  1. 2 hours and 30 minutes a week of moderate intensity exercise. Aerobic exercise should be performed in episodes of at least 10 minutes preferably spread throughout the week. Muscle strengthening activities that involve all major muscle groups should be performed at least 2-3 days a week

5.Prescription of Orthosis

A

T

29
Q

Type of hydrocephalus

caused by inability to normally reabsorb CSF for the arachnoid granulations.

A. Communicating
B. Non-Communicating
C. Hydrocephalus ex vacuo

A

A

30
Q

Type of hydrocephalus

result conditions causing intraventricular obstruction. Congenital malformations and mass lesions, common cause.

A. Communicating
B. Non-Communicating
C. Hydrocephalus ex vacuo

A

B

31
Q

Type of hydrocephalus

describes increases volume without CSF pressure, seen n conditions with reduced cerebral tissues (malformation, atrophy)

A. Communicating
B. Non-Communicating
C. Hydrocephalus ex vacuo

A

C

32
Q

Common features of hydrocephalus

A
  • Sun Setting
  • Sign Crackpot Sign
33
Q

CHRONIC S/SX of hydrocephalus

A
  • Dementia
  • Incontinence
  • Ataxia
34
Q

Most common symptoms of ventriculoperitoneal shunt

A
  • inc. irritability
  • inc. muscle tone
  • seizures
  • vomiting
35
Q

T/F. ventriculoperitoneal shunt malfunction is not an emergency case

Shunt malfunction includes: bulging Fontanels, headache, redness along shunt tract

A

FT

ventriculoperitoneal shunt malfunction is an emergency case

36
Q

Identify the grade of Brooke scale for UE

Starting with arms at the sides, the patient can abduct the arms in a full circle until they touch above the head

A

1

37
Q

Identify the grade of Brooke scale for UE

Can raise arms above head only by flexing the elbow (shortening the circumference of the movement) or using accessory muscles

A

2

38
Q

Identify the grade of Brooke scale for UE

Cannot raise hands above head, but can raise an 8-oz glass of water to the mouth

A

3

39
Q

Identify the grade of Brooke scale for UE

Can raise hands to the mouth, but cannot raise an 8-oz glass of water to the mouth

A

4

40
Q

Identify the grade of Brooke scale for UE

Cannot raise hands to the mouth, but can use hands to hold a pen or pick up pennies from the table

A

5

41
Q

Identify the grade of Brooke scale for UE

Cannot raise hands to the mouth and has no useful function of hands

A

6

42
Q

Identify the grade of Vignos scale for LE

Walks and climbs stairs without assistance

A

1

43
Q

Identify the grade of Vignos scale for LE

Walks and climbs stair with aid of railing

A

2

44
Q

Identify the grade of Vignos scale for LE

Walks and climbs stairs slowly with aid of railing (over 25 seconds for 8 standard steps)

A

3

45
Q

Identify the grade of Vignos scale for LE

Walks unassisted and rises from chair but cannot climb stairs

A

4

46
Q

Identify the grade of Vignos scale for LE

Walks unassisted but cannot rise from chair or climb stairs

A

5

47
Q

Identify the grade of Vignos scale for LE

Walks only with assistance or walks independently with long leg braces

A

6

48
Q

Identify the grade of Vignos scale for LE

Walks in long leg braces but requires assistance for balance

A

7

49
Q

Identify the grade of Vignos scale for LE

Stands in long leg braces but unable to walk even with assistance

A

8

50
Q

Identify the grade of Vignos scale for LE

Is in a wheelchair

A

9

51
Q

Identify the grade of Vignos scale for LE

Is confined to a bed

A

10

52
Q

Identify the chromosomal anomalies

  • aka mongolism, down’s syndrome
  • GEN craniofascie:
  • flat occiput, oblique palpebral fissure, epicanthic folds, speckled iris (brushfield spots)
  • congenital heart disease, mainly septal defects
  • dec acetabular and iliac, small penis, cryptorchidism
  • simean crease, short bound hands
    -hypoplasia of middle phalanx of 5th finger gap bw 1st and 2nd toes
  • ligamentous laxity –> AA subluxation
  • variable IQ

A. TRISOMY 21
B. TRISOMY 18
C. TRISOMY 13
D. TRISOMY 15
E. TRISOMY 4

A

A

53
Q

Identify the chromosomal anomalies

  • aka Edward’s Syndrome
  • lifespan: until 1 yo
  • F: 7mos
  • M: 2 mos

Gen:
- MR, Hypertonia, BW

Craniofascie:
- prominent occipit, micrognathia, low set malformed ears hands and feet:
-camptodactyly
- talipes equinovarus

A. TRISOMY 21
B. TRISOMY 18
C. TRISOMY 13
D. TRISOMY 15
E. TRISOMY 4

A

B

54
Q

Identify the chromosomal anomalies

  • F>M lifespan: 3yo

Gen:
- MR, apneic episodes Craniofascie:
- microcephaly (progressive)
- microphthalmia Hands and feet
-polydactyly
- hypoplastic nails Simean crease

A. TRISOMY 21
B. TRISOMY 18
C. TRISOMY 13
D. TRISOMY 15
E. TRISOMY 4

A

C

55
Q

Identify the chromosomal anomalies

  • lifespan: 2 yo
  • aka cri-du-chat, cat cry syndrome
  • abn high pitched cry- distinguishing feature
  • microcephaly

A. TRISOMY 21
B. TRISOMY 18
C. TRISOMY 13
D. TRISOMY 15
E. TRISOMY 4

A

D

56
Q

Identify the chromosomal anomalies

  • aka Wolf Hirchhorn syndrome
  • lifespan: 2 yo
  • more severe psychomotor and MR
  • congenital heart defect and kidney problem

A. TRISOMY 21
B. TRISOMY 18
C. TRISOMY 13
D. TRISOMY 15
E. TRISOMY 4

A

E

57
Q

Identify the chromosomal anomalies

have N gonadal function

A. PRADER WILLI SYNDROME
B. Turner syndrome
C. KLINEFELTER SYNDROME
D. XXX FEMALE

A

D

58
Q

Identify the chromosomal anomalies

  • XXY syndrome
  • M>F
  • s/sx are present @ puberty stage
  • N intelligence
  • passive personality
  • dec libido
  • underdeveloped gonads

A. PRADER WILLI SYNDROME
B. Turner syndrome
C. KLINEFELTER SYNDROME
D. XXX FEMALE

A

C

59
Q

Identify the chromosomal anomalies

  • XO syndrome
  • Bonnevie Ulrich Syndrome
  • Gonadal Dysgenesis

Characteristic:
- obstunded growth
- F>M
- underdeveloped breast
- webbed neck
- cubitus valgus
- early osteoporosis
- patellar dislocation
- radial head dislocation

A. PRADER WILLI SYNDROME
B. Turner syndrome
C. KLINEFELTER SYNDROME
D. XXX FEMALE

A

B

60
Q

Identify the chromosomal anomalies

-Hyperphagia
- Hypotonia
- hypometria

A. PRADER WILLI SYNDROME
B. Turner syndrome
C. KLINEFELTER SYNDROME
D. XXX FEMALE

A

A

(3) Pediatric Rehabilitation (13 decks)

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