Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Neuroconditions 2022 > Duchenne Muscular Dystrophy and Pediatric NM > Flashcards

Duchenne Muscular Dystrophy and Pediatric NM Flashcards

(51 cards)

Start Studying
1
Q

What us type II sma

A

survival into adulthood, with diasbility

proximal weakness, able to sit, but not able to walk

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is Type III SMA

A

> age of 18 months
proximal weakness, able to walk but may lose ability
normal survival

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is Type I SMA

A

age of onset <6 months
severe hypotonia, never able to sit
survival: death/ventilation by 2 years

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are signs associated with SMA?

A

slip through, tongue fasiculations, gait: proximal weakness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is type four SMA?

A

age of onset over 30
mild motor impairment
normal survival

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are the signs and symptoms for non-sitters?

A 
postural control difficulties
contractures
chest-wall deformities
plagiocephaly 
pain 
fatigue
impaired mobility 
hip dislocation 
skin breakdown 
fractures
impaired pulm function
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are S&S for sitters with SMA?

A 
postural control diffficulties 
contractures
scoliosis and pelvic obliquity
cehst wall deform
impaired mobility 
impaired pulm func
deformation of feet
hand tremors
fractures
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are the S&S for walkers with SMA?

A 
muscle weakness asymmetry 
impaired mobility 
fatigue
falls
fractures
contractures and inflexibillity 
reduced endurance
hand tremors
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are interventions for non-sitters?

A

tummy time, eary WB stander, contracture prevention, optimize posture via positioning and bracing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are interventions for sitters?

A

strength– tummy time, aqua therapy, hippotherapy, adaptive sports
developemmntal strength via tranistional movements (rolling, kneeling, half kneeling, crawling, supported standind)
contracture prevetion (bracing, standers, orthotics)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are interventions for walkers?

A

endurance training: adaptive sports, recumbant biking, aqau
transitional (STS and step ups)
Fall recovery activities (crawling, floor to stand)
strength (yoga, eliptical, BW training, aqua

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are signs of weakness associated with DMD?

A 
head laf (DMD and SMA)
Gower's sign 
difficulty climbing stairs
muscle hypertrophy (primarily in calves)
cognitive/language involvement
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

At what age is prominent muscle weakness observed in DMD?

A

age 5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What defines the early stage of DMD?

A

diagnosis

early ambulatory

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What defines the transitional stage?

A

late ambulatory

early non–ambulatory

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What defines late stage of DMD

A

late stage (adult)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is the NM managment for DMD?

A

assess function every 6 months, strength, and ROM

discussion/initiate steriods

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is the rehab management for DMD

A

comprehensive multidisciplinary assessments
provide treatment via therapies
prevent contractures, falls moving towards providing mobility devices

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is the ortho management for DMD?

A

asses ROM every 6 motnhs

monitor scoliosis annually

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What are the test and measures specific to DMD.BMD?

A

north star ambulatory assessment (NSAA)

timed function tests: timed to rise from floor, 10 meter walk run , 4 stair climb test

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What are DMD/BMD care considerations for treatment interveentions?

Study These Flashcards
A

passive and active stretching
maintain strength: bike riding and swimming, avoid over exercising, use RPE
non-fatiguing exercises(weaker within 30 min, excessive soreness 24-48 hours is too fatiguing,
avoid eccentrics and overexertion due to increased muscle damage

breathing exercise

physical fitness and activity

equipment needs

22
Q

What treatments are for early stage DMD?

Study These Flashcards
A

stretching, night splinting, 504 plan, strength activites, parent/child education, aquatics

23
Q

What treatments are for transitional stage DMD?

Study These Flashcards
A

activity and respiratory exercise, squatic exer ise, eduction of school personnel and family on transfers, home accessibility

24
Q

What treatments are for late non-ambulatory stage DMD ?

Study These Flashcards
A

equipment, resporiatory management, aquatic exercise, pain, palliative care

25
What are participation measures used for DMD?
children's assessment of participation and enjoyment (CAPE) (6-21) pediatric quality of life inventory young children's participation and environment measure (YCPEM) (age 0-5) participation and environment measure for children and youth (PEM-CY) (age 5-17)
26
Why do you not recommend AFO for DMD?
puts eccentric force on the quad
27
What is DMD?
duchenne muscular dystrophy is an X linked inherited NM disease causing progressive muscular atrophy that leads to the loss of ambulation in childhood
28
What is becker musclar dystrophy
milder phenotype of this same disease
29
What is DMD caused by?
deletion, duplication, or point mutation on the Xp21 gene that is responsible for a protein called dystrophin
30
What does an in-frame mutation | /
in frame mutation maintains more of the genetic code, allowing for the production of a semi-functional dystrophin protein and leading to what is clinically diagnosed as BMD
31
what is an out of frame mutation
disrupts the genetic code so that no functional dystrophin protein is produced, resulting in DMD
32
Where is the dystrophin protein located?
within the sarcolemma and is part of the dystrophing glycoprotein complex
33
What does the dystrophin protein to?
links the actin cytoskeleton to the extracellular matrix, stabilizing the structure of the cell membrane during repeated muscle contractions supports the structure of the muscle cell membrane by sensing mechanical stress and regulating the influx of molecules into and out of the muscle cell
34
Where is dystrophin found?
cardiacn and smooth muscle | small isoforms are found in the brain, retina, liver, and Schwann cells
35
What are the primary impairments in DBMD?
muscle cell atrophy and fibrosis
36
What are secondar impairments of DBMD?
muscle weakness, joint contracture, posture and gait deficits , cognitve deficits, cardiomyopathy, respiratory conditions
37
What is involved in the newborn screening?
use of CK testing
38
What is elevated in boys with DBMD?
CreatineKinase (CK) 10-100 times the normal amount
39
What are the signs and symptoms of NM conditions?
weakness, low tone (hypotonia), decreased or absent reflexes
40
What should you know to diagnose a NM condition?
history -- pre/peri/post natal and developmental milestones/course of condition examination-- giat, calves, weakness in infant, aposity of movements diagnostics-- CK testin, genetic testing
41
At what age does DMD present itself?
3-5 yeard of age
42
What are common signs of DMD
large calves, proximal muscle weakness, gower's maneuver, | classic gait pattern-- trendelenburg, wide BOS, increase lordotic posture
43
What is spinal muscular atrophy (SMA)
autosomal recessive, motor neuron disease, diagnosed by genetic testing
44
What are the 3 classic childhood phenotypes of SMA?
Type 1=non-sitters Tyep 2=sitters Type 3=walkers
45
What are the SMA common signs?
``` low tones proximal >distal weakness decreased or absent reflexes smart hand tremor(high frequency low amp. tremor) ```
46
What are some medical coomplications involved with SMA?
pulmonary, nutritional and orthopedic
47
What are the three FDA approved treatments for SMA?
Nusinersen (spinraza)=lumbar puncture every 4 months-- makes more SMN protein (short RNA sequence that binds near exon 7-- antisence oliconucleotide)-- reverses symptoms in SMA patients Zolgensma= gene therapy for those less than 2, stops the progression of SMA, includes a gene and a vector (can cause liver injury/failure) ridiplan= daily oral, affects fertility
48
What is the number one genetic cause of infant death?
spinal muscular atrophy
49
What does SMA cause?
motor neuron death, missing or non-working motor neuron -- responsible for eating, breathing, sitting up. walking SMN1 is damaged or gone
50
What is CMT
group of like diseases caused by inherited genetic mutations., damgages the peripheral nerves outside the brain and sppinal cord
51
What disease is characterized by muscle wasting due to anterior horn cells?
SMA

Neuroconditions 2022 (14 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions