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Special Populations > Muscular Dystrophy and SMA > Flashcards

Muscular Dystrophy and SMA Flashcards

1
Q

what is muscular dystrophy?

A

group of hereditary myopathies

  • progressive muscle weakness, deterioration, destruction, and regeneration of muscle fibers
  • muscle fibers gradually replaced by fibrous and fatty tissues
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2
Q

List various types of muscular dystrophy disorders

A
  1. Beckers dystrophy
  2. myotonic dystrophy
  3. limb girdle dystrophy
  4. facioscapulohumeral dystrophy
  5. Congential muscular dystrophy
  6. Emery Dreifuss muscular dystrophy
  7. Duchene’s Muscular Dystrophy
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3
Q

describe Becker’s Dystrophy

A
  1. occurs 5-10 years
  2. X-linked
  3. slowly progressive, maintain walking past early teens, life span into 30s
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4
Q

describe Congenital Muscular Dystrophy

A
  1. occurs at birth
  2. recessive linked
  3. typically, slow but variable, shortened lifespan
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5
Q

describe congenital/myotonic dystrophy

A
  1. occurs at birth
  2. dominant genes
  3. typically slow with significant intellectual impairment
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6
Q

describe facioscapulohumeral dystrophy

A
  1. occurs in the first decade
  2. dominant/recessive genes
  3. slowly progressive loss of walking in later life, variable life expectancy
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7
Q

describe Emery-Dreifus Muscular Dystrophy

A
  1. childhood to early teens
  2. x-linked
  3. slowly progressive with cardiac abnormality and normal life span
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8
Q

what is Duchenne’s Muscular Dystrophy?

A
  1. one of the most prevalent and disabling
  2. death usually due to respiratory or cardiorespiratory insufficiency
  3. many are surviving into 30s
    • new challenges for therapy, education, vocation
  4. incidence between 1 in 3500 male births
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9
Q

describe the etiology of muscular dystrophy

A
  1. sex-linked recessive genetic disorder
  2. abnormality on X chromosome at band Xp21
  3. results in a disorder of encoding dystrophin and dystrophin associated proteins (DAP)
  4. dystrophin acts as an anchor in the intracellular lattice to enhance tensile strength
  5. muscle biopsy shows degeneration with loss of fiber, variation in fiber size, and a proliferation of connective and adipose tissue
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10
Q

Clinical Presentation of Muscular Dystrophy

A
  1. insidious → may be misdiagnosed
  2. early symptoms
  3. Gower’s sign
  4. intellectual impairment, emotional disturbance
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11
Q

early symptoms of muscular dystrophy

A
  1. reluctance to walk or run at appropriate ages
  2. falling
  3. difficulty with stairs
  4. toe walking
  5. clumsiness
  6. pseudohypertrophy
    • gastric, deltoids, quads, forearm extensors
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12
Q

Signs and Symptoms of Muscular Dystrophy

A
  1. proximal muscles tend to be weaker early in the course of the disease
  2. early weakness in hip and knee extensors
  3. exaggerated lordosis, wide BOS, waddling gait, IT band contractures, heel cord contractures as disease progressed
  4. loss of unassisted ambulation at ages 9-10
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13
Q

Medical Interventions for muscular dystrophy

A
  1. steroids
  2. BUT → side effects (weight gain, growth suppression, cataracts, osteoporosis)
  3. other investigations
    • myoblast transplant
    • gene therapy
    • cell-based replacement therapy
  4. creatine → improved muscle strength and endurance, less joint stiffness
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14
Q

Surgical management of deformity

A
  1. muscle releases → achilles, fasciotomy of TFL and IT bands
  2. scoliosis stabilization
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15
Q

Evidence-based tests and measures for DMD

A
  1. Northstar ambulatory assessment
  2. The performance of upper limb of Duchenne
  3. Brook Scale
  4. Vignos Scale-Box 12.2
  5. Egen Klassification Scale
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16
Q

Muscular Dystrophy prognosis

A
  1. timed functional activities closely related to muscle strength and predictive of loss of ambulation
  2. 10 m walk/run time greater than 9 sec and inability to rise from the floor predict loss of ambulation within 2 years
  3. 10 m walk time greater than 12 seconds predicts loss of ambulation within a year
    • order a wheelchair now to prepare
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17
Q

PT’s role with muscular dystrophy

A
  1. early diagnosis → you may be the first one to see the child
  2. education, referral, support for family
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18
Q

PT’s goals for muscular dystrophy

A
  1. prolong function, prevent contractures and deformities, adapt equipment, encourage peer and community interaction
  2. PAIN control → many experience spasms and pain
    • massage and gentle stretching appear to help
  3. Wellness and prevention → weight control, sleep and respiratory concerns, B&B concerns
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19
Q

PT Intervention during infancy with muscular dystrophy

A
  1. may see developmental delay related to weakness
  2. mild tightness of gastric and TFL
  3. family support and edu
  4. consider daily ROM and night splinting
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20
Q

PT Intervention during early school age period in muscular dystrophy

A
  1. limitations in activity more apparent
    • clumsiness
    • falling
    • difficulty with stairs
    • rising to standing
    • running
  2. gait deviations
    • increased BOS
    • compensated Trendelenburg
    • toe walking
    • lordosis with shoulder retraction
    • lack of arm swing
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21
Q

PT Goals in early school age period

A
  1. family support and edu
  2. obtain baseline data on ROM and MMT
  3. monitor progression
  4. maintain flexibility
    • especially at the ankle → these kids tend to get contractures in the heel cord
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22
Q

what is SMA?

A

spinal muscular atrophy

has 3 subtypes

23
Q

what are the 3 subtypes of SMA?

A
  1. Infantile Werdnig-Hoffman
  2. Intermediate Type II
  3. Juvenile Kugelberg-Welander
24
Q

describe SMA

A
  • all are autosomal recessive disorders cell located on chromosome 5
  • effect anterior horn
  • associated with wasting and weakness of muscles
  • no sensory distrubances
25
Q

Diagnosis of SMA

A
  1. clinical presentation
  2. EMG → denervation with fibrillations and a paucity of motor units
  3. muscle biopsy, muscle ultrasound
  4. genetic testing
  5. normal cardiac tissue
26
Q

what is SMA1?

A

aka Wernig-Hoffman

infantile → symptoms onset prior to 6 months of age

27
Q

describe Wernig-Hoffman disease

A
  1. almost always noted in first 3 months of life
  2. often decreased fetal movement
  3. hypotonia but appear alert and responsive
  4. difficulty feeding
  5. respiratory distress
  6. muscle wasting w/few spontaneous movements
  7. DTRs decreased or absent
28
Q

what is the typical lifespan of someone with Wernig-Hoffman disease?

A

typically limited

due to respiratory failure and dependency on aggressiveness of trx

29
Q

secondary impairments of SMA1

A
  1. scoliosis
  2. contractures
  3. decreased respiratory capacity
  4. fatiguability
30
Q

PT for SMA1

A
  1. ROM
  2. feeding
  3. positioning
  4. respiratory care
  5. select developmental activities
  6. assistive technology
31
Q

SMA1 Other

A
  1. limited use of prone due to difficulty lifting head
  2. inhibition of abdominal expansion and diaphragmatic depression
  3. breathing may become difficult in upright as well
32
Q

when is SMA Type II (Intermediate) diagnosed?

A

typically 3-6 months of age

also affects infants but not as severely as Type I

33
Q

describe SMA Type II

A
  1. floppy, slow to develop motor milestones
  2. weak trunk and extremities w/muscle atrophy
  3. few have feeding problems
  4. fine extremity tremors
  5. may/may not learn to walk
  6. most require orthotic intervention
34
Q

PT implications for SMA Type II

A
  1. Encourage stance
  2. Prevent deformity
  3. Respiratory interventions
  4. Adapt play and writing tools
35
Q

When is Kugelberg-Welander disease diagnosed?

A

Juvenile SMA

diagnosed between 1 and 10

36
Q

describe Kugelberg-Welander disease

A
  1. slowly progressive weakness
  2. mild impairments
  3. proximal muscles are usually invovled first
37
Q

Special Examinations to consider with SMA

A
  1. Timed Gowers
  2. CHOP-INTEND → for Type II
  3. The Expanded Hammersmith Functional Motor Scale → for type II or III
  4. Revised Upper Limb Module for SMA
38
Q

T/F: strength and exercise is controversial for early school aged children with muscular dystrophy

A

TRUE

it is widely accepted that eccentric exercise and immobilization are detrimental

graded exercise is controversial

39
Q

what key muscles should be considered/targeted in early school aged children with muscular dystrophy?

A
  1. abdominal
  2. hip extensors
  3. hip abductors
  4. knee extensors
40
Q

how can you promote activity in early school aged children with muscular dystrophy?

A
  1. Cycling
  2. swimming
  3. standing 2-3 hours daily
    • very important to help promote bone development and mobility in LEs
41
Q

ROM considerations in early school aged children with muscular dystrophy

A
  1. may not be able to prevent contractures → but can slow their development
  2. Key LE muscles to stretch:
    • gastroc
    • hamstrings
    • TFL
  3. should perform 1-2x daily
    • up to 10 reps
    • 30-60 second holds
42
Q

should night splints be used in early school aged children with muscular dystrophy?

A

YES

night splints in combo with daily stretching most effective and can prolong ambulation

43
Q

Respiratory function considerations in early school aged children with muscular dystrophy

A
  1. measure:
    • RR
    • chest wall expansion
    • coughing
    • secretion clearing
    • spirometry
  2. breathing exercises and inspiratory muscle training important
44
Q

Progression considerations in early school aged children with muscular dystrophy

A
  1. Consider other mobility options
    • as weakness progresses → falls increases
    • manual WC, scooters, electric WC are all options
  2. increased risk of falls if ambulating past when it is feasible
  3. risk for scoliosis increases once a child is nonambulatory
45
Q

when is there considerable deterioration in function in children with muscular dystrophy?

A

Adolescent Period

loss of walking occurs and reliance on powered mobility occurs

46
Q

UE considerations during Adolescent Period

A
  1. encourage participation in ADLs as much as possible
  2. may need adaptive equipment for self feeding
  3. UE ergometry program
  4. focus on maintaince of muscles needed for transfers
47
Q

LE ROM considerations during Adolescent Period

A
  1. gentle stretching continued
    • may add hip flexors
    • long finger flexors
    • shoulder
    • elbow
    • forearm and wrist
48
Q

Respiratory function considerations during Adolescent Period

A
  1. position of spine is crucial
    • neutral to slightly extended is best to prevent scoliosis
      • loads facet joints and prevents rotation and lateral flexion
49
Q

PT Implications during Adolscent Period

A
  1. Continuation of standing and walking encouraged
    • standers help with this
  2. bracing and therapeutic walking may be based on:
    • obesity
    • residual muscle strength
    • absence of severe contractures
    • timely application of braces
    • motivation of family and child
  3. some surgical correction may be necessary to prolong ambulation → personal decision
  4. Walking programs helpful
  5. KAFO w/SBA
50
Q

Functional Mobility during adolscent period

A
  1. stand pivot transfers replaced by 1-2 person lifts or lift equipment
    • sliding boards not appropriate
  2. toilet and shower equipment needed
  3. powered mobility required
    • transition from powered scooter to standard power chair
  4. MDA can help
51
Q

why are slide boards not appropriate during the adolscent period in children with muscular dystrophy?

A

due to UE weakness

52
Q

Other equipment considerations during Adolescent Period

A
  1. consider a urinal → decreases need for transfers
  2. airflow mattress
    • egg crate or memory foam or hospital bed
53
Q

Respiratory Function during Adulthood in muscular dystrophy

A
  1. after age 18 → FVC and PEF decline
  2. respiratory failure and infection are contributing factors to death
  3. assisted ventilation can prolong life
    • daytime intermittent positive pressure ventilation via mask or nasal cannula
    • noctural BiPAP
    • negative pressure ventilators
    • suctioning
  4. breathing exercises
  5. postural drainage

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