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Ther 103 > Genetic and Cognitive disorderes > Flashcards

Genetic and Cognitive disorderes Flashcards

(48 cards)

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1
Q

What are common pediactric conditions

A 
Muscular Dystrophy
Club Foot
Spina Bifida
Hydrocephalus
Congenital Torticollis
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2
Q

What does Congenital mean

A

A condition or disorder you are born with

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3
Q

What does Genetic mean

A

A condition or disorder caused by a defective gene or chromosone. May not be present at birth

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4
Q

What type of Disease is Musclar Dystrophy

A

Genetic (inhereted) disorder

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5
Q

Which Gender does muscular Dysthrophy mainly effect

A

Males, conditions not as severe with females

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6
Q

What is the most common form of muscular dystrophy

A

Duchennes Muscular Dystrophy (DMD) 1:3000 males

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7
Q

What effect does MD have on the body

A

Causes muscles to become very weak. Muscles break down and are replaced with fatty tissue

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8
Q

What causes Duchenne Muscular Dystrophy?

A

X linked ressesive gene

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9
Q

What are some characterists of DMD?

A 
obvious by age 3
Pelvic and shoulder muscles effected
Difficulty running 
Toe walking
Frequent trips and falls
Facial weakness
Leg pain
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10
Q

What is Gowers sign ?

A

Child is unable to stand on their own
support himself with his hands to get up
proximal muscle weakness

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11
Q

Where does someone with Gowers sign lack strength?

A

Hip/Thigh muscle

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12
Q

What are ways to diagnose MD

A 
Muscle biopsy is primary test
Blood tests
DNA chromosome analyisis
EMG- Electromyogram
ECG- Electrocardiogram
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13
Q

What is the pathophysiology of MD

A
  1. Gene defect affects manufacture of protien needed for muscle cells
  2. Calcuim build up in muscle fibers
  3. calcuim activates enzymes which break down muscle cells
  4. Muscle cells are replaced with fibrous tissue
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14
Q

What is the Prognosis of DMD

A

MD is a progressive condition
usually in wheelchair age 10
death due to cardiorespitory issues by age 20

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15
Q

What is the goal of treatment with DMD

A

Prevent deformity and allow child to function independently as long as possible

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16
Q

What are other forms of Muscular Dystrophy

A

Beckers MD
Fascioscapulohumeral MD
Limp Girdle MD

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17
Q

Beckers MD

A

Sex linked
Less severe then DMD
Patients may be color blind

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18
Q

Fascioscapulohumeral MD

A

Autosomial Dominant
6-20 years old
Scapula and Facial muscle

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19
Q

Limp Gurdle MD

A

Autosomal ressesive
10-30 years old
Shoulder and Pelvic muscle weakness

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20
Q

What is Tailpes Equinovarus

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A

Ankle is held in a Plantar flexated and inverted position due to tight achilles tendon

21
Q

What is treatment for Clubfoot

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A
  1. Regular Stretching
  2. Serial Casting
  3. Surgically lengthened
22
Q

What is Spinal Bifida

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A

Congenital condition caused by failure of the vertabral canal to close.

23
Q

What is the purpose of the neruo arch

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A

support and protect the spinal cord

24
Q

What type of disease is Spinal Bifida

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A

congenetical defect in the neuro arch

25
What are the 3 types of Spinal Bifida
Spinal bifida occulta-least severe meningocele- moderate myelomeningocele- most severe
26
Spinal Bifida Occulta
least severe | meninges and spinal cord do not protrude
27
Spinal Bifida Meningocele
Herination of meninges through bony vertebral defect varying degrees of sensory and motor impairment may have bladder and bowel dysfunction
28
Myelomeningocele
Most severe Meninges, spinal cord and spinal nerve roots protrude threw the defect Motor and sensory loss Surgery usually required
29
L1-2 lessions
no sensation in legs wheelchair needed no control of bladder and bowel
30
L3-4 Lessions
No sensation in feet and legs Can walk short distances with aids No bowel or bladder control
31
S2-4 Lessions
No sensation in feet Can usually walk alone Can control bladder and bowel
32
How to prevent Spinal Bifida
Multivitamin with 400mg of folic acid is recommended to decrease likelyhood
33
What is Hydrocephalus
Blockage of the flow of cerebralspinal fluid which can cause an enlarged cranium
34
How is Hydrocephalus treated
Surgically with a Ventriculoperitonal shunt
35
What are signs of shunt failure
Irrability Bulging eyes Headache Changes in behavior Vommiting Fever Seizure Sleeping more than usual
36
Congenital Torticollis
Child is born with tightness in one SCM | Child's head is side flexed and rotated away from the tight muscle
37
Treatment for Congenital Torticollis
Passively stretch the tight SCM in the opposite direction multiple times per day placing toys in positions where child needs to rotate thier head Carrying baby in side lying position
38
Muscular Dystrophy
A group of genetic disorders where there is weakness in the muscles
39
Congenital disorder
A disorder that is present at birth
40
Pseudohypertrophy
False hypertrophy of muscle seen with DMD
41
Equinovarus
A foot deformity in which the ankle is held in a plantar flexed and inverted position
42
Spinal Bifida
A congenital disorder in which the caused by the failure of the vertabral canal to close
43
SB occulta
Form of SB with malfunction in neuro arch
44
SB meningocele
Form of SB where Meninges protrude from the defect
45
SB myelomenigocele
Most severe form of SB where spinal cord and meninges protrude
46
Hydrocephalus
Enlargement of cranium do to blockage of flow of Spinal cord fluid
47
Ventriculoperitoneal shunt
Shunt used in the treatment of hydrocephalus to drain SCF from the ventricles
48
Congenital Torticollus
A cogenital shortening of one SCM

Ther 103 (8 decks)

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