Term
Include a number of disorders that are characterized by progressive weakness and atrophy of certain mm groups
pathologic condition of the motor unit
Most common lower motor neuron disorder in children |
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Definition
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Term
| Facts of spinal muscular atrophy |
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Definition
Disorder of the LMN and motor nuclei of the brainstem
degeneration of the anterior horn cell
genetically determined
usually effects are symmetrical
Classification is arbitrary |
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Term
| Five common finds of SMA? |
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Definition
nEMG, evidence of degeneration and regeneration
nEMG, decrease in compound motor unit action potentials (CMAPs)
nMuscle biopsy – large group atrophy Type 1
nLab studies generally normal
nNerve conduction velocities normal |
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Term
| Symptom onset, course, and death of severe SMA? |
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Definition
0-6 months
never sits
<2 years |
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Term
| Three SMA classifications? |
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Definition
Mild (SMA III) - able to stand and walk unaided
Intermediate (SMA II) - able to sit unsupported, unable to stand or walk unaided
Severe (SMA I) - unable to sit unaided |
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Term
| Symptom onset, course, and death of intermediate SMA? |
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Definition
7-18 months
never stands
<2 years |
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Term
| Symptom onset, course, and death of mild SMA? |
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Definition
>18 months
stands alone
adult |
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Term
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Definition
Autosomal recessive
characterized by prox. mm weakness, primarily LEs |
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Term
| 4 Mild SMA clinical features? |
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Definition
Difficulty with running, jumping
Waddling gait
Hand tremors
Hypermobile joints |
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Term
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Definition
Weakness relatively static
Long term survival dependent on respiratory function |
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Term
| 3 intervention focuses for mild SMA? |
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Definition
Encourage activity
Promote ambulation
Minimize infection risk |
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Term
| 3 facts of intermediate SMA? |
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Definition
Age of onset usually between 6-12 months
long term prognosis is dependent on respiratory function
1 / 15,000 – 25,000 |
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Term
| 9 clinical features of SMA? |
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Definition
Symmetrical weakness of LE
Tongue fasciculations
Hand tremors
Absent or decreased DTRs
Facial muscles are spared
Kyphoscoliosis
Intercostal mm involvement
Hypotonia
Significant jt laxity |
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Term
| Intermediate SMA prognosis? |
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Definition
Dependent on respiratory system
mm weakness is static
Functional improvement with intervention has been demonstrated |
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Term
| 4 interventions for intermediate SMA? |
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Definition
Prevention of scoliosis
Standing posture is important
Promote ambulation
Prevent infections |
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Term
| What is another name for severe SMA? |
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Definition
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Term
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Definition
Age of onset - in utero or within the first few months of life
3-4 / 100,000 births
193/ 100,000 births in Muslim countries |
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Term
| 7 clinical features of severe SMA? |
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Definition
Hypotonia
Significant mm weakness (frog position)
Sucking and swallowing problems
Respiratory difficulties
Poor head control
Costal recession
Weak cry |
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Term
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Definition
Weakness is not progressive
Very prone to respiratory infections
Life expectancy for most 1 - 3 years without ventilatory support |
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Term
| 2 interventions for severe SMA? |
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Definition
Respiratory care including suctioning
Pattern of breathing is diaphragmatic but with inappropriate thoracic expansion |
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