Anterior Horn Cell - Spinal Muscle Atrophy

Question 1

Spinal muscle atrophies primarily impact

Answer 1

Anterior horn cell

Question 2

SMA - include

Answer 2

A number of disorders that are characterized by progressive weakness and atrophy of certain mm groups
Almost always will be a symmetrical pattern of progressive weakness though

Question 3

SMA - pathologic condition of

Answer 3

the motor unit

Question 4

SMA - most common

Answer 4

LMN disorder in children

Second most common genetic pathology that we see (first is CF)

Question 5

SMA - genetic

Answer 5

ALL are genetic

Most are autosomal recessive - chromosome 5

Question 6

SMA - what is it

Answer 6

Disorder of the LMN and motor nuclei of the brainstem

Degeneration of the AHC (motor neuron) and the CN nuclei

Question 7

SMA - more common in

Answer 7

M than F (2:1)

The later the onset, the less likely F will be affected

Question 8

SMA - classification

Answer 8

Arbitrary - usually comes down to age of diagnosis

Question 9

Common findings - EMG

Answer 9

EMG - evidence of degeneration and regeneration, decrease in compound motor unit action potentials (CMAPs)

Question 10

Common findings - MM biopsy

Answer 10

MM biopsy - small fiber atrophy interspread with large fiber hypertrophy

Question 11

Common findings - Lab studies

Answer 11

Lab studies are generally normal

Question 12

Common findings - Nerve conduction velocities

Answer 12

Nerve conduction velocities are generally normal

Question 13

SMA classification

Answer 13

Adult onset (IV)
Mild (III)
Intermediate (II)
Severe (I)

Question 14

SMA classification Adult Onset - Type

Answer 14

IV

Question 15

SMA classification - Adult onset Type IV - general presentation

Answer 15

Subtle presentation
Mm initially affected are pelvic and shoulder girdle (proximal mm)
Problems with standing, STS

Question 16

SMA classification - Mild - Type

Answer 16

III

Question 17

SMA classification - Mild Type III- General presentation

Answer 17

Able to stand and walk unaided

Usually discovered in adolescence

Question 18

SMA classification - Intermediate - Type

Answer 18

II

Question 19

SMA classification Intermediate Type II - General presentation

Answer 19

Able to sit unsupported, unable to stand or walk unaided

Might not be able to achieve sitting but once there they might be fine

Question 20

SMA classification - Severe - Type

Answer 20

I

Question 21

SMA classification - Severe Type I - general presentation

Answer 21

Unable to sit unaided

Trunk has to be supported

Question 22

SMA Type I (Severe) - Table
Symptom onset:
Course:
Death:

Answer 22

0 to 6 m
Never sits
Less than 2 yrs

Question 23

SMA Type II (intermediate) - Table
Symptom onset:
Course:

Answer 23

7 to 18 m
Never stands
More then 2 years

Question 24

SMA Type III (mild) - Table
Symptom onset:
Course:

Answer 24

More than 18 m
Stands alone
Adult

Question 25

SMA Type IV (adult)- Table Symptom onset: Course:

Answer 25

Over 30 Relatively benign Normal life span

Question 26

Mild - type III AKA | Characterized by

Answer 26

Kugel Welander Autosomal recessive Proximal mm weakness, primarily LEs

Question 27

Mild - Type III - clinical deatures

Answer 27

Difficulty with running, jumping Waddling gait Hand tremors Hypermobile joints - hypotonicity issue

Question 28

Mild - Type III - Prognosis

Answer 28

Long term survival dependent on resp. function | Bulbar function impairment often comes about late in the disease process

Question 29

Mild - Type III - - Intervention focus

Answer 29

``` Encourage activity Promote ambulation as long as possible Minimize risk of infection Join protection Promote nutrition ```

Question 30

Intermediate - Type II - age of onset usually between

Answer 30

6 and 12 months

Question 31

Intermediate - Type II - prognosis

Answer 31

Long term prognosis is dependent on resp. function

Question 32

Which is the most common type

Answer 32

Intermediate - Type II - accounting for about 50% of cases

Question 33

Intermediate - Type II - Clinical features

Answer 33

``` Symmetrical weakness of LE Tongue fasciculations Hand tremors Absent or dec DTRs Facial mm spared Kyphoscoliosis Intercostal mm involvement Hypotonia Significant jt laxity ```

Question 34

Intermediate - Type II - prognosis

Answer 34

Dependent on resp. system MM weakness is relatively static Functional improvement with intervention May be prone to hip issues (sublux/disloc)

Question 35

Intermediate - Type II - Intervention

Answer 35

``` Prevention of scoliosis Standing posture is important Promote ambulation if possible Prevent infections Assistive technologies ```

Question 36

Severe (type I) - age of onset

Answer 36

In utero or within first few months of life | 1/10,000 births

Question 37

Severe (type I) - clinical features

Answer 37

``` Hypotonia (floppy child) Significant mm weakness (frog) Sucking and swallowing problems Resp. difficulties Poor head control Costal recession Weak cry ```

Question 38

Severe (type I) - prognosis

Answer 38

Very prone to resp infections | Life expectancy for most is 1-3 years without ventilatory support - even with they wont live past 5 or 6 years

Question 39

Severe (type I) - Intervention

Answer 39

Resp care including suctioning | Pattern of breathing is diaphragmatic but with inappropriate thoracic expansion

Question 40

Methods of tube feeding

Answer 40

Used to provide nutritional support Hydration Medication delivery Temporary or Permanent

Question 41

Types of naso

Answer 41

Nasogastric Nasoduodenal Nasojejunal

Question 42

Issues for NG tubes

Answer 42

``` Uncomfortable Tape Easier to displace Less volume possible so you need more frequent feeding schedule More spit up ```

Question 43

Operative feeding tubes

Answer 43

Gastrostomy (GT) feeding | Jejunostomy (JT) feeding

Question 44

GI tubes - open gastrostomy

Answer 44

Open G tube that they will go in and suture

Question 45

Percutaneous endoscopic gastrostomy tube - PEG tube

Answer 45

More common | Go in and place it - the tube has a balloon at the end that goes into the stomach

Question 46

Buttons

Answer 46

Make sure to check them for leakage or drainage, for infection, and just make sure to continuously monitor them

Question 47

Issues for GI tube

Answer 47

``` Infections Drainage/Leakage Malfunctions can occur Tube can interfere with activity Balloon buttons may not inflate Valves may get stuck ```

Question 48

Good things with GI tube

Answer 48

Can give a larger bolus - more volume Easier to replace Less GI upset

Question 49

Floppy infant

Answer 49

Dec mm activity secondary to hypotonicity issue Res positions are unusual (frog leg) Developmental delays