Spinal Muscular Atrophy "SMA" Flashcards

1
Q

SMA

Defined:

A

Genetic disease affecting anterior horn cells in SC

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2
Q

Spinal Muscular Atrophy

Muscular:

A

Mm’s unable to receive signals from nerve cells

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3
Q

Spinal Muscular Atrophy

Atrophy

A

When mm’s not active→ lose size+girth and waste away

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4
Q

SMA

Causes → MAIN

A
  • Defect→ Chromosome 5
    • Motor PRO deficiency→ SMN→ “survival of motor neuron”
      • 4 types
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5
Q

SMA

other causes

A
  • Mutations in UBE1 on X-chromosome
  • Mutation of DYNC1H1 gene on chromosome 14
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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.
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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
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8
Q

SMA Prognosis

A

Depends on type and severity

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9
Q

MOST SEVERE SMA

A

Type 1

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10
Q

Type 1 SMA:

aka

A

Acute Childhood/Infantile SMA

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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

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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
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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
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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
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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
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16
Q

SMA Type 1: Tx

besides resp health

A
  • Positioning
    • Supine w/ suppors
    • S/L GOOD position
      • +resp health and un-wts one side
      • very functional due to antigravity pos.== midline play
    • Prone avoided
17
Q

SMA Type 1: Tx cont’d

Supported Sitting

A
  • Supported sitting
    • Abdom binder,
    • spinal alignment
    • hammocks→ great for allowing IND but supported mvmt
    • ROM for contracture mgmt
    • LIGHT strengthening in certain pos’s
18
Q

SMA Type 1 videos

A

Acute childhood SMA

see slide 12******

19
Q

SMA Type 2

aka

A

Chronic Childhood SMA aka “Intermediate SMA”

20
Q

SMA Type 2: Chronic Childhood SMA

Clinical presentation:

A
  • Weakness→ typ first year of life→ typ bw 7-14mos
  • Variable course
  • Pearn and colleagues:
    • 95%→ weakness <3yo
    • 46% never walked
    • 38% ambulate unaided @ some stage
  • Median age of death >10yrs
  • Pulm health plays factor in life span
21
Q

SMA Type 2: Chronic Childhood SMA

Eng reports 3 subgroupings w/in Type 2

A
  1. Severe
    1. resembles Type 1→ inability to sit, sig. impaired resp system
  2. Intermediate
    1. sit alone but do NOT achieve amb.
  3. Mild
    1. children amb. IND but lost ability by end of first decade
22
Q

Type 2 SMA

Weakness

A
  • Prox weak> dist weak as in type 1, to a lesser degree
    • hip, knee exts, trunk
    • less severe but present contractures
23
Q

Type 2 SMA Tx: Infancy

A
  • Baby program w/ chronic SMA similar to type 1
  • Trunk control in antigravity pos’s
  • Dev. activities and gross motor skills
    • maintain function if not achieving milestones
  • Aquatic tx
  • Adapted equip.
    • Standers→ esp if not standing by 16mos
    • TLSO→ assist w/ trunk alignment in upright pos.
      • slows gravity deforms
24
Q

Type 2 SMA Tx: Preschool/School Age

A
  • Orthotics→ lt. wt. KAFOs
  • Assisted walking programs
    • SAFETY! 2* incd fx risk and falls bc weakness
  • Supported walking DECs:
    • contracture, hip disloc’s, scoliosis curve progression
  • power mobility if not ambulating
  • contractures 2* prolonged sitting
  • progression of scoliosis high incidence
  • sx for spinal stab.
25
Q

Scoliosis and TLSO

A

see pics

26
Q

THKAFO and power chair

A
27
Q

SMA Type 2: Transition into Adulthood

A
  • Adulthood survival variable
  • Weakness progresses
  • All mobility and ADLs assistance needed
    • aide and/or family mbr around the clock
  • Aggressive pulm hygiene program
  • Continued ROM
  • Vocational services
28
Q

SMA type 2 videos

A

slide 20****

29
Q

SMA Type 3 aka

A

Juvenile Onset

*Kugelber-Welander Disease

30
Q

SMA Type 3: Juvenile Onset

Clinical Presentation

A
  • Weakness→ after 18mos @ least, OR late into first decade
  • typ stand/walk IND, may req. aids
  • Prox. LE weakness====PRIMARY FINDING***
    • 2* Impairs:
      • postural compensations, trendelenburg gait, INC lumbar lordosis, contractures, scoliosis
31
Q

Type 3 SMA: School-Age

A
  • Difficulties:
    • rise from floor, stairs, keeping up w/ peers
  • Characteristics:
    • waddling gait, balance defs, tremors, prox UE strength preserved
32
Q

Type 3 SMA: Juvenile Onset

School-Age

Ambulation?

A

Ambulation typ preserved as primary mode of loco.

more severe→ scooter

33
Q

Type 3 SMA: Juvenile Onset

School-Aged

PT mgmt

*similar to other types

A
  • Maint. ROM
  • Maint. strength
  • teach adaptive equip. use
34
Q

Type 3 SMA: Transition to Adulthood

A
  • Gen weakness
  • Lifespan NOT shortened→ episodic PT and HEP preserves function
  • Vocational counseling absolutely req’d
35
Q

Type 4 SMA: Adult Onset

A
  • Onset in adulthood
  • Function fairly typical prior to onset**
  • Amb preserved t/o adulthood w/ weak. developing gradually over time
36
Q

Severity of SMA vs Types of SMA

A

Severity DECs as types INCs

Types I-III== PEDS

37
Q

Hallmarks in ALL FORMS of SMA

A

Prox>Distal, symmetric weakness

Contractures

Resp. health concerns***

38
Q

PTs play a major role in care/mgmt of SMA from infancy→ adulthood ***

A

!!!!!!