Spinal Muscular Atrophy "SMA" Flashcards
1
Q
SMA
Defined:
A
Genetic disease affecting anterior horn cells in SC
2
Q
Spinal Muscular Atrophy
Muscular:
A
Mm’s unable to receive signals from nerve cells
3
Q
Spinal Muscular Atrophy
Atrophy
A
When mm’s not active→ lose size+girth and waste away
4
Q
SMA
Causes → MAIN
A
-
Defect→ Chromosome 5
- Motor PRO deficiency→ SMN→ “survival of motor neuron”
- 4 types
- Motor PRO deficiency→ SMN→ “survival of motor neuron”
5
Q
SMA
other causes
A
- Mutations in UBE1 on X-chromosome
- Mutation of DYNC1H1 gene on chromosome 14
6
Q
SMA
Diagnosis
A
-
Creatine Kinase, CK
- leaks out of mm’s when deteriorating
- nonspecific test
-
Genetic Testing
- blood test
-
MM biopsy and NCVT
- less freq.
7
Q
Symptoms of SMA:
Range: Mild→Severe
A
-
Primary sx’s→ Weakness of voluntary mm’s
- Prox weak>Dist weak
- Typ symmetrical
- respiration, posture, overall mobility
-
PRESERVED→
- intelligence, social dev, sensation*, sphincter control
8
Q
SMA Prognosis
A
Depends on type and severity
9
Q
MOST SEVERE SMA
A
Type 1
10
Q
Type 1 SMA:
aka
A
Acute Childhood/Infantile SMA
11
Q
Type 1 SMA; Acute Childhood/Infantile SMA
*MOST severe
A
- Werdnig-Hoffman Disease
- Weakness→ @ birth or <4mos
- CN involve.
- Resp. probs and accessory mm use to breathe
- continue to belly breathe due to impaired diaphragm strength
- swallow/feeding diffs
- MM fasciculations→ also tongue
- Tremor
IN GENERAL→ alert and responsive
12
Q
SMA Type 1:
Clinical Characteristics/Facts
A
- Weakness→ neck, trunk, shoulders, pelvic girdle, antigrav mm’s
- Frog legged pos.→ gravity pulls them into this
-
Limtd head/trunk control
- cannot clear airway in prone
- no unassisted sitting milestone
- scoliosis prominently seen→ early in type 1
13
Q
SMA Type 1: Childhood SMA/Infantile Onset
MSK issues
A
- MM contractures & alignment issues→ 2* weakness and not taking mm’s thru full ROM
14
Q
SMA Type 1: Childhood SMA
Life span
A
- Death from PNA or resp comps common w/in first few mos to few yrs
-
Mean age of death= 6mos
- some cases up to 42mos
15
Q
SMA Type 1: Tx
MAIN FOCUS
A
-
Respiratory health
- Chest PT reqd***
- Assist cough
- Postural drainage pos’s
- Support devices; ex. vibration vests
- Chest PT reqd***