Muscular Dystrophy + Spinal Muscular Dystrophy Flashcards

1
Q

General info on dystrophy and atrophy?

A

inherited disorders of motor unit or LMN
progressive nm diseases
death usually because of respiratory complication (no cure)

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2
Q

progressive loss of muscle contractility due to destruction of myofibrils

A

muscular dystrophy

dx by EMG/labs/biopsy

include low IQ

progressive*

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3
Q

What are the criteria for classification?

A
mode of inheritance
age of onset
rate of progression
localization
muscle changes
any other organs involved?
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4
Q

What is gower movement?

what do you wanna do with pt who has that?

A

climbing up legs with arms

refer and treat.

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5
Q

2 types of dystrophy u gotta know and age of onset?

A

Duchenne –floppy(1-4 years)

Becker– 5-10 years

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6
Q

Rapidly progressive dystrophy

when is loss of walking and death?

A

Duchenne

8-14 yrs

late teens-3rd decade

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7
Q

slowly progressive dystrophy

what happens with walking?

lifespan?

A

Beckers Dystrophy

maintained thru early teens

die in 4-5th decade

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8
Q

Weight of DMD

and complications?

A

get fat then at 17 they lose all the weight..

complications of MS/pulm/scoliosis

usually die from respiratory so work on that.

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9
Q

specificityc impairments of DMD and where do contractures develop?

A

weak neck flexor/abs/scap/hip ext

achilles/ITband/hip flexor/hammy/elbow flexors and wrist

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10
Q

What happens in early phase duchenne?

A

2-6 yr til 6-10 yrs

a lot of Fx loss
Tx focuses on strength/coordination/flexibility/orthotics…

DO NOT USE FOOD AS REWARD

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11
Q

What happens in transitional phase of DMD?

A

6-12 yrs

muscle weakness/fx loss/postural adjustments.

Tx for activity w/o fatigue/ same as early/ begin respiratory ex/ modify home/ refer for scoliosis

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12
Q

Strength patterns of DMD?

A

Biceps>tris
Sup>pro
wrist ext> flex

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13
Q

DMD loss of ambulation phase?

A

8-14 yrs.

90% of time in chair.

want to maintain everything get some equipment and work with MD.

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14
Q

Adult phase of DMD?

A

15+ yrs

heart and muscle deteriorate (increased MI)

again just wanna maintain,

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15
Q

What are medical Tx for DMD?

A

steroids to increase amb/ decrease progression.

Molecular therapeutics: what every that means

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16
Q

Main difference between Duchenne and Becker?

A

Becker has cramps. and more slowly progressing. live longer.

17
Q

What is the missing protein in DMD and Beckers?

A

Dystophin

this is what research is trying to deliver to the dystrophic muscles

18
Q

Number of large ant horn cells in SC reduced.

A

Spinal muscular Atrophy

progressive degeneration of remaining cells cause loss of Fx.

19
Q

What is mode of inheritance in spinal atrophy?

what will parent note?

A

autosomal recessive defect of chromosome 5

they hit a plateau and are now getting worse.

20
Q

4 types of SMA?

A

acute (0-3 mo) die first year
chronic (3mo-4 yrs) stabilizes
Kugelber-welander (5-10 yr)
Adult-onset

3 is slow while 1+2 rapid

21
Q

Primary impairments of Spinal Muscular Atrophy?

Secondary?

A

weakness secondary to progressive loss of anterior horn cells in SC

atrophy
Fatigue
Contracture
Postural deformity.

22
Q

Which SMA may result in scoliosis?

A

type 3 kugelber-welander

23
Q

What is specific assessment in type 1 SMA?

A

feeding/oral motor skill

24
Q

Tx for SMA?

A

similar to muscular dystrophy
Respiratory
walking