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Neuroconditions 2022 > Duchenne Muscular Dystrophy and Pediatric NM > Flashcards

Duchenne Muscular Dystrophy and Pediatric NM Flashcards

1
Q

What us type II sma

A

survival into adulthood, with diasbility

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

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2
Q

What is Type III SMA

A

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

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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

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4
Q

What are signs associated with SMA?

A

slip through, tongue fasiculations, gait: proximal weakness

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5
Q

What is type four SMA?

A

age of onset over 30
mild motor impairment
normal survival

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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
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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
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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
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9
Q

What are interventions for non-sitters?

A

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

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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)

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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

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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
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13
Q

At what age is prominent muscle weakness observed in DMD?

A

age 5

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14
Q

What defines the early stage of DMD?

A

diagnosis

early ambulatory

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15
Q

What defines the transitional stage?

A

late ambulatory

early non–ambulatory

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16
Q

What defines late stage of DMD

A

late stage (adult)

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17
Q

What is the NM managment for DMD?

A

assess function every 6 months, strength, and ROM

discussion/initiate steriods

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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

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19
Q

What is the ortho management for DMD?

A

asses ROM every 6 motnhs

monitor scoliosis annually

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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

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21
Q

What are DMD/BMD care considerations for treatment interveentions?

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?

A

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

23
Q

What treatments are for transitional stage DMD?

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 ?

A

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

25
Q

What are participation measures used for DMD?

A

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
Q

Why do you not recommend AFO for DMD?

A

puts eccentric force on the quad

27
Q

What is DMD?

A

duchenne muscular dystrophy is an X linked inherited NM disease causing progressive muscular atrophy that leads to the loss of ambulation in childhood

28
Q

What is becker musclar dystrophy

A

milder phenotype of this same disease

29
Q

What is DMD caused by?

A

deletion, duplication, or point mutation on the Xp21 gene that is responsible for a protein called dystrophin

30
Q

What does an in-frame mutation

/

A

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
Q

what is an out of frame mutation

A

disrupts the genetic code so that no functional dystrophin protein is produced, resulting in DMD

32
Q

Where is the dystrophin protein located?

A

within the sarcolemma and is part of the dystrophing glycoprotein complex

33
Q

What does the dystrophin protein to?

A

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
Q

Where is dystrophin found?

A

cardiacn and smooth muscle

small isoforms are found in the brain, retina, liver, and Schwann cells

35
Q

What are the primary impairments in DBMD?

A

muscle cell atrophy and fibrosis

36
Q

What are secondar impairments of DBMD?

A

muscle weakness, joint contracture, posture and gait deficits , cognitve deficits, cardiomyopathy, respiratory conditions

37
Q

What is involved in the newborn screening?

A

use of CK testing

38
Q

What is elevated in boys with DBMD?

A

CreatineKinase (CK) 10-100 times the normal amount

39
Q

What are the signs and symptoms of NM conditions?

A

weakness, low tone (hypotonia), decreased or absent reflexes

40
Q

What should you know to diagnose a NM condition?

A

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
Q

At what age does DMD present itself?

A

3-5 yeard of age

42
Q

What are common signs of DMD

A

large calves, proximal muscle weakness, gower’s maneuver,

classic gait pattern– trendelenburg, wide BOS, increase lordotic posture

43
Q

What is spinal muscular atrophy (SMA)

A

autosomal recessive, motor neuron disease, diagnosed by genetic testing

44
Q

What are the 3 classic childhood phenotypes of SMA?

A

Type 1=non-sitters
Tyep 2=sitters
Type 3=walkers

45
Q

What are the SMA common signs?

A 
low tones 
proximal >distal weakness 
decreased or absent reflexes 
smart
hand tremor(high frequency low amp. tremor)
46
Q

What are some medical coomplications involved with SMA?

A

pulmonary, nutritional and orthopedic

47
Q

What are the three FDA approved treatments for SMA?

A

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
Q

What is the number one genetic cause of infant death?

A

spinal muscular atrophy

49
Q

What does SMA cause?

A

motor neuron death, missing or non-working motor neuron – responsible for eating, breathing, sitting up. walking
SMN1 is damaged or gone

50
Q

What is CMT

A

group of like diseases caused by inherited genetic mutations., damgages the peripheral nerves outside the brain and sppinal cord

51
Q

What disease is characterized by muscle wasting due to anterior horn cells?

A

SMA

Neuroconditions 2022 (14 decks)

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