Muscular Dystrophy + Spinal Muscular Dystrophy

Question 1

General info on dystrophy and atrophy?

Answer 1

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

Question 2

progressive loss of muscle contractility due to destruction of myofibrils

Answer 2

muscular dystrophy

dx by EMG/labs/biopsy

include low IQ

progressive*

Question 3

What are the criteria for classification?

Answer 3

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

Question 4

What is gower movement?

what do you wanna do with pt who has that?

Answer 4

climbing up legs with arms

refer and treat.

Question 5

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

Answer 5

Duchenne –floppy(1-4 years)

Becker– 5-10 years

Question 6

Rapidly progressive dystrophy

when is loss of walking and death?

Answer 6

Duchenne

8-14 yrs

late teens-3rd decade

Question 7

slowly progressive dystrophy

what happens with walking?

lifespan?

Answer 7

Beckers Dystrophy

maintained thru early teens

die in 4-5th decade

Question 8

Weight of DMD

and complications?

Answer 8

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

complications of MS/pulm/scoliosis

usually die from respiratory so work on that.

Question 9

specificityc impairments of DMD and where do contractures develop?

Answer 9

weak neck flexor/abs/scap/hip ext

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

Question 10

What happens in early phase duchenne?

Answer 10

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

Question 11

What happens in transitional phase of DMD?

Answer 11

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

Question 12

Strength patterns of DMD?

Answer 12

Biceps>tris
Sup>pro
wrist ext> flex

Question 13

DMD loss of ambulation phase?

Answer 13

8-14 yrs.

90% of time in chair.

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

Question 14

Adult phase of DMD?

Answer 14

15+ yrs

heart and muscle deteriorate (increased MI)

again just wanna maintain,

Question 15

What are medical Tx for DMD?

Answer 15

steroids to increase amb/ decrease progression.

Molecular therapeutics: what every that means

Question 16

Main difference between Duchenne and Becker?

Answer 16

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

Question 17

What is the missing protein in DMD and Beckers?

Answer 17

Dystophin

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

Question 18

Number of large ant horn cells in SC reduced.

Answer 18

Spinal muscular Atrophy

progressive degeneration of remaining cells cause loss of Fx.

Question 19

What is mode of inheritance in spinal atrophy?

what will parent note?

Answer 19

autosomal recessive defect of chromosome 5

they hit a plateau and are now getting worse.

Question 20

4 types of SMA?

Answer 20

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

Question 21

Primary impairments of Spinal Muscular Atrophy?

Secondary?

Answer 21

weakness secondary to progressive loss of anterior horn cells in SC

atrophy
Fatigue
Contracture
Postural deformity.

Question 22

Which SMA may result in scoliosis?

Answer 22

type 3 kugelber-welander

Question 23

What is specific assessment in type 1 SMA?

Answer 23

feeding/oral motor skill

Question 24

Tx for SMA?

Answer 24

similar to muscular dystrophy
Respiratory
walking