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pediatrics > NMD > Flashcards

NMD Flashcards

1
Q

NMD can be stable and unchanging (static) only
true or false?

A

false, it may be static or progressive

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2
Q

give examples of Congenital neuromuscular disorders

A

Muscular dystrophy.
Myotonic dystrophy.
Spinal muscular atrophy.
Peripheral neuropathies (such as Charcot-Marie-Tooth disease).
Generalized muscle and nerve issues (such as mitochondrial disorders).

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3
Q

Mostly proximal muscles affected in the primary muscle disease and lower extremities more affected than the upper
true or false?

A

true

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4
Q

the deep tendon reflexes are increased
true or false?

A

false, decreased

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5
Q

Limb-girdle muscular dystrophy (OPMD)
Distal muscular dystrophy
Emery-Dreifuss muscular dystrophy
Congenital MD
Duchenne MD
Becker MD
Myotonic dystrophy
Facioscapulohumeral (FSHD)
are related to?

A

muscular dystrophy

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6
Q

DMD is a genetic disorder characterized by non progressive muscle degeneration
true or false?

A

false, progressive

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7
Q

which protein is altered in DMD?

A

dystrophin

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8
Q

list the abnormalities of DMD

A

sway back
weak but muscles
knees bended back to take weight
shoulders and arm are held backwardly while walking
thick lower leg muscles but not strong
belly sticks
thin weak thighs from front
poor balance
clumsy walking
tight heel cord
foot drop and tip toe contracture

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9
Q

what is the sign that is present in DMD patients?

A

Govers

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10
Q

DMD is a genetically transmitted condition that has an x-linked dominant mode of inheritance
true or false?

A

false, recessive mode

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11
Q

what are the symptoms of DMD?

A

trouble walking
Loss of reflexes
Difficulty standing up
Poor posture
Bone thinning
Scoliosis
Mild intellectual impairment
Breathing difficulties
Swallowing problems
Lung and heart weakness

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12
Q

The disease occurs when this protein is shorter than normal due to a defect in the gene that programs the muscle protein Dystrophin

is related to which disease?

A

Becker Muscular Dystrophy (BMD

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13
Q

DMD is less severe than BMD
true or false?

A

false, more severe

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14
Q

Walking on your toes
Frequent falls
Muscle cramps
Trouble getting up from the floor.
are symptoms of ?

A

BMD

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15
Q

of muscular dystrophy affects the muscles in your face, shoulders, and upper arms is?

A

Facioscapulohumeral Dystrophy (FSHD)

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16
Q

what are the symptoms of FSHD?

A

Difficulty chewing or swallowing
Slanted shoulders
A crooked appearance of the mouth
A winging scapula

17
Q

FSHD tends to progress fastly.
true or false?

A

false, slowly

18
Q

in FSHD Symptoms usually appear during patient’s teenage years, but they sometimes don’t appear until 40s
true or false?

A

true

19
Q

facial weakness and asymmetry
horizontal axillary fold
poly-hill sign
westing of humeral muscles
beover sign
drop foot
calf atrophy and hamstring weakness
lumbar hyper lordosis
winging scapula
are related to?

A

FSHD

20
Q

progressive neuromuscular disease characterized by proximal muscle weakness and paralysis in which spinal cord anterior horn cells and brainstem motor nuclei are involved in?

A

SMA

21
Q

most common genetic cause of infant death is?

A

SMA

22
Q

what are the muscles are affected first in SMA?

A

progressive weakness of voluntary muscles, with arm, leg andrespiratory muscles

23
Q

what are the types of SMA?

A

SMA 0
SMA 1 Werdnig Hoffmann Disease
SMA 2
SMA 3 Kugelberg- Walender Disease
SMA 4

24
Q

what is the most severe and common form of the disease of SMA?

A

SMA type one werding Hoffmann

25
Q

lack of head stability, they never capable of sitting without support.
Severe hypotonia
Chewing, swalloving .
difficulty coughing and secretion due to pulmonary muscles effect
are all related to?

A

SMA Type 1 Werdnig Hoffmann Disease

26
Q

These patients capable of sitting without support some of them crawling or even manage to stand but they are not capable of maintain standing position or walking independantly.

Deep tendon reflexes are gone.

Spine deformities are commonly observed in the first years of life
are symptoms of?

A

SMA type 2

27
Q

It is a lighter form among SMAs.

In this form, patients can able to walk independently.

At the age of 20-30, they can lose their ambulation abilities

related to?

A

Type 3 Kugelberg- Walender Disease

28
Q

parapodium devices are using for keeping?

A

upright position

29
Q

the most recommended exercise are aerobics, strengthening and breathing exercises in neuromuscular disease
true or false?

A

true

30
Q

faradic current is much proper than TENS and FES for NMD patients
true or false?

A

false

31
Q

which current can exacerbate fatigue for NMD ?

A

FES

pediatrics (5 decks)

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