Spinal Muscular Atrophy Flashcards

1
Q

Spinal muscular atrophy refers to neurogenic disorders whose underlying pathology affects what?

A

sensory and spinal interneurons and as a result anterior horn cells

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

SMA is an autosomal ______ disease

A

recessive

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

What are the 3 classes of SMA?

A
  • Type I
  • Type II
  • Type III
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is SMA type I aka?

A

Werdnig-Hoffmann disease

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

How is a child diagnosed with SMA type I?

A

they are so weak that they have never learned to sit

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

When is SMA type I almost always noted?

A

within the first 3 months of life

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the initial symptoms observe in SMA type I?

A

axial hypotonicity and difficulty feeding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Patietns with SMA type I have limited repiratory function, describe their general breathing pattern

A

Paradoxical, with the diaphragmatic muscles playing the primary role in ventilation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Approximately half of the children with infantile SMA do not survive beyond _ years of age

A

2

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

When does SMA type II initially present?

A

later in the first year of life when the child is noted to not pull to stand

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

What is a common sign in children with SMA type II?

A

Fasciculations of the tongue

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

What happens when children with SMA type II attempt to use their limbs?

A

fine tremors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What 2 muscle groups are most prone to contracture in SMA type II?

A

knee flexors and ankle plantarflexors

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

What is SMA type III aka?

A

Kugelberg-Welander Disease

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

When does SMA type III typically appear?

A

it varies anywhere from the toddler years into adulthood (may be considered type IV if this late)

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

Why is SMA type III confused with muscular dystrophy?

A

Because it is characterized by proximal muscle wasting that occurs later in life

17
Q

True or False

Contractures and spinal deformity are common in SMA type III

A

False

18
Q

What will genetic testing reveal in a child with SMA?

A

deletion of the SMN gene on the fifth chromosome

19
Q

If symptoms occur before age 2 it can be expected that the patient will ambulate until age __, however if symptoms do not begin until after age 2 it can be expected that the patient will ambulate until age __

A

12

44

20
Q

What is the focus of SMA treatment?

A

the maintenance of function and flexibility

21
Q

What is a critical component of PT intervention in the child with SMA?

A

Bracing and standers