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Neuromuscular Pathology (Midterm) > Disorders of the Anterior Horn Cells (SMA, Postpolio Syndrome) > Flashcards

Disorders of the Anterior Horn Cells (SMA, Postpolio Syndrome) Flashcards

1
Q

SMA Type I course:

A
  • Rapid
  • Severe hypotonia
  • Death within 3 yr
    • 32% survive 2nd yr
    • 8% survive 10 yrs
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2
Q

Functional recovery from acute poliomyelitis:

A
  1. neuromuscular learning: practice
  2. use of muscle at a high level
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3
Q

What is the age of onset of SMA Type II?

A

before 18 months

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4
Q

etiology/pathology of post-polio syndrome; theories:

A
  • Unknown, but several theories:
    • remaining MN can no longer maintain new sprouts; denervation exceeds reinnervation
    • motor cortex with dereased capacity to control locomotor activity
    • Genetic viral material deregulates immune responses
    • stress of aging
    • previously affected neuron did not fully recover
    • metabolic exhaustion of giant motor units
    • NMJ trasnmition deficits
    • Scarring within motor units
    • Increased weakness due to weight gain
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5
Q

what gene is defective in 99% of all cases of SMA?

A

SMN 1 Survival Motor Neuron

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6
Q

how many cases of pot-polio syndrome in 1987?

A

1.6 million in US

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7
Q

How many of the previous acute polio pt develop post-polio syndrome

A

20-40%

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8
Q

Course of SMA type III:

A
  • Slowly progressive
  • can ambulate at some point
  • usually wheelchair dependent in adulthood
  • shortened lifespan
    • some may have normal lifespan
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9
Q

What is survival motor neuron SMN1?

A

naturally occuring protein

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10
Q

AHC degeneration leads to

A

progressive muscle weakness & atrophy

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11
Q

What is the course SMA type II?

A
  • Can survivie up to 10 yrs
  • Progressive but stabilizes
  • Can sit​, but standing or walking usually not possible
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12
Q

What is poliomyelitis?

A
  • Poliovirus spreads to CNS & attacks motor neurons in spinal cord & brain
  • Results in assymmetric flaccid muscle paresis or paralysis
  • LE’s more affected than UE’s
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13
Q

A 1 y/o child has been diagnosed with SMA. What is the prognosis?

A

will lose ambulatory ability at around age 12

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14
Q

Gene deletion of chromosome 5

A

SMA

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15
Q

Clinical course of postpolio syndrome

A
  1. Normal
  2. Paralysis
  3. Recovery
  4. 10-15 yrs of stability
  5. Post-polio syndrome
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16
Q

prognosis of SMA

A
  • best prognosis types III and IV
  • type III:
    • Onset > 2 yrs old; remain ambulatory during adulthood
    • Onset before 2 yrs: lose ambulatory ability at age 12 on
      average
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17
Q

SMA P.T. Intervention may include:

A

– Strengthening exercises
– Aerobic exercise
– Developmental skill training
– Aquatic therapy
– Standing program
– Management of respiratory complications
– Management of contractures
– Management of scoliosis/skeletal deformities
– Prescription of/training with assistive devices

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18
Q

Medical treatment of SMA:

A
  • Symptomatic and preventive, no cure
  • Respiratory care
  • prevent MSK complications
  • Maintenance of head control
  • feeding assitance
  • scoliosis tx
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19
Q

What are the clinical features of SMA type III?

A
  • Prox LE weakness
  • Good UE strenght
  • Slow, continued developmental progression
  • Can sit inddependently
  • Gait and postural deviations
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20
Q

What is post-polio syndrome?

A
  • In 70’s and 80’s polio survivors developed new weakness
  • Late effects of polimyelitis
  • primary, secondary, MSK and psychosocial impairments
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21
Q

Psychological considerations of PPS:

A
  1. Coping Styles
  2. Response to new diagnosis
  3. Compliance
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22
Q

percentage of people infected with polio virus that do not develop illness or only mild case:

A

95-99%

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23
Q

How are the EMG/NVC in PPS?

A
  • Sensory NCV: normal
  • Motor NCV: normal but may be slowed
  • EMG: abnormalities of chronic denervation
  • Muscle biopsy
24
Q

When does the onset of SMA occur?

A
  • varies from early onset to late in life
  • majority occur during infancy
  • adult forms are very rare
25
Q

Clinical features of SMA type IV:

A
  • mild to moderate gradual proximal muscle weakness
  • may show tremor and twitching, mild respiratory difficulty
  • usually remain ambulatory, may need wheelchair
  • normal lifespan
26
Q

What is the adopted posture in children with SMA type I?

A
  • LE: flexed, abbducted, externally rotated
  • UE: abducted externally rotated, unable to move to midline against gravity
27
Q

PPS clinical manifestations:

A
  • Fatigue: most common symptom
  • New muscle weakness: asymmetric. prox. and/or distal.
    • Due to disuse, overuse, chronic, weight gain
  • Muscle atrophy
  • Muscle pain: high intensity, associated with mechanical stress
  • Swallowing dysfunction
  • Gait and difficulty with ADL’s
  • Respiratory dysfunction
  • Cold intolerance
  • Sleep disorders
28
Q

A group of inherited disorders characterized by degeneration and loss of anterior horn cells (AHC)

A

SPINAL MUSCULAR ATROPHY (SMA)

29
Q

Neurological recovery from acute poliomyelitis affected by:

A
  1. Motor neurons that recover & resume normal fucntion
  2. Collateral sprouting to reinnervate orphaned muscle fibers: giant motor units
  3. Innervated muscle fibers can be hypertrophied by intensive exercise: denervation hypertrophy
30
Q

Onset of post-polio syndrome

A

35 yrs after acute polio

31
Q

What is the adopted posture in children with SMA type II?

A

LE flexed, abb, ER

32
Q

onset of SMA type IV

A

after age 30

33
Q

in the eraly polio epimic, patient were told to…

A
  • Use “heroic” compensatory methods
  • used ligaments for stability (resulted in hypermobility)
34
Q

How is the weakness presented in SMA?

A
  • Bilateral
  • Symetrical
  • More proximal
  • Facial muscles may be involved
  • Relative sparing of eye muscles and anal sphincter
35
Q

onset of SMA type I

A

0-3 months

36
Q

What is the inicidence of SMA type I, II, III?

A
  • Type I: 1 in 15,000 - 25,000 live births
  • Type II: 1 in 15,000 - 25,000 live births
  • Type III: 6 in 100,000 live births
37
Q

Diferential diagnosis of PPS need to rule out:

A
  • ALS
  • MS
  • Hypothyroid myopathy
  • Other conditions:
    • Anemia
    • Chronic infection
    • Infectious myopathy
    • Myasthenia gravis
    • Weakness due to aging
    • Weight gain
38
Q

A 3 y/o child has been diagnosed with SMA. What is the prognosis?

A

remain ambulatory during adulthood

39
Q

diagnosis of SMA

A
  • Clinical pictures
  • muscle biopsy
  • decreased motor AP in EMG
  • NCV: slower later in the course
  • Genetic testing
40
Q

What is the long term effect of substitutions and overcompesations?

A
  • Microtrauma of ligaments and joint structures
  • Exhaustion of neuromuscular units

(Poliomyelitis)

41
Q

Second most common fatal autosomal recessive disorder after cystic fibrosis

A

SMA, mother and father has to have it

42
Q

What do lab tests in PPS show?

A

elevated creatine kinase

Clinically, creatine kinase is assayed in blood tests as a marker of damage of CK-rich tissue such as in myocardial infarction (heart attack), rhabdomyolysis (severe muscle breakdown), muscular dystrophy, the autoimmune myositides and inacute renal failure.

43
Q

Common SMA deformities include:

A
  • Scoliosis
  • Kyphosis
  • Lordosis
  • Contractures
  • Joint dislocation
44
Q

Incidence of SMA type I

A

1 in 15,000 - 25,000 live births

45
Q

General picture of SMA:

A
  • Bilateral, symmetric, proximal weakness
  • Skeletal deformities
  • Progressive atrophy: flaccidity
  • Dimished DTR’s
  • Normal sensory
  • Normal intellectual
  • Restrictive lung disease
46
Q

Severity of signs and symptoms in SMA related to what?

A
  • how many copies of SMN2 are present
  • More copies of SMN2 = more SMN protein produced = less severe forms of SMA
47
Q

Diagnosis of PPS:

A
  • Hx of polio
  • 15 yrs of stability
  • At least two new symptoms from the following:
    • Excessive fatigue
    • Muscle or joint pain
    • Muscle atrophy
    • Cold intolerance
  • Rule out: ALS, MS, hypothyroid myopathy, MG, weight gain, wekaness due to aging
48
Q

Rehab considarations for muscle and joint pain in PPS:

A
  • Heat
  • Electrical stimulation
  • Stretching exercises/ROM
  • Muscle relaxation exercise
  • Biofeedback
  • Lifestyle changes
49
Q

Types of SMA?

A
  • SMA I
  • SMA II
  • SMA III
  • Adult SMA (IV)
50
Q

What is the age of onset of SMA type III?

A

18 months

51
Q

SMA prevalence:

A
  • 1 in 20,000 live births
  • 1 in 50 carry the genetic defect
52
Q

SMA goals for PT

A
  • Achieve highest levels of indepence and mobility
    • improve/maintain muscle strenght and aerobic capacity
  • prevent or delay development of complications
53
Q

SMA Pathogenesis

A
  • AHC degenration occurs due to decreased level of SMN1
  • SMN2 can compensate, but is not as effective.
54
Q

Which is the most severe form of SMA?

A

SMA Type I

55
Q
A

Neuromuscular Pathology (Midterm) (9 decks)

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