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PT 641 Peds > Neurodegenerative Diseases > Flashcards

Neurodegenerative Diseases Flashcards

1
Q

disorders with primary pathology affecting any part of the motor unit from the anterior horn cell out to the muscle

A

neuromuscular disease

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2
Q

a group of muscle diseases that are genetic in nature

A

muscular dystrophy - type of neuromuscular disease

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3
Q

steady, progressive degenerative course

A

neuromuscular diseases

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4
Q

how to classify neuromuscular diseases

A
  • microscopic evaluation of muscle tissue as well as clinical presentation (distribution of weakness, mode of inheritance, pathologic findings)
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5
Q

a group of proteins that link sub-sarcolemmal cytoskeleton and extracellular matrix with the contractile apparatus of the muscle cell membrane

A

dystrophin-glycoprotein complex (DGC)

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6
Q

what is the gene for duchenne muscular dystrophy (DMD)

A

dystrophin-glycoprotein complex (DGC)

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7
Q

what are duchenne muscular dystrophy (DMD) and becker muscular dystrophy (BMD)

A

dystrophinopathies

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8
Q

in DMD, dystrophin is

A

absent

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9
Q

in BMD, dystrophin is

A

deficient

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10
Q

limb girdle muscular dystrophy (LGMD) are known as _____, and sarcoglycan proteins are

A
  • sarcoglycanopathies
  • deficient
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11
Q

another name for duchenne muscular dystrophy

A

pseudohypertrophic muscular dystrophy

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12
Q

progressive MD; Dystrophinopathy in which children become weaker and eventually die due to respiratory failure

A

DMD

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13
Q

what is DMD linked to

A

x-linked inheritance pattern - M get disease from mom

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14
Q

how to confirm DMD

A

lab studies and muscle biopsies

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15
Q

what is abnormally high in DMD

A

serum creatine kinase (CK)

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16
Q

findings in muscle biopsy for DMD

A
  • degenerating and regenerating fibers
  • inflammatory infiltrates
  • increased connective tissues and adipose cells
  • immunohistologic staining - absence of dystrophin
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17
Q

absence of dystrophin in DMD leads to disruption of linkage between

A

cytoskeleton and extracellular matrix

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18
Q

lack of dystrophin leads to

A

sarcolemmal instability and increase in susceptibility of microtears

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19
Q

what exacerbates microtears in DMD

A

muscle cx

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20
Q

when is onset of DMD

A

2-3 y/o

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21
Q

sx of DMD

A

reluctance to walk, falling, difficulty getting off floor, toe walking

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22
Q

what age can a child with DMD typically ambulate to

A

9-10 y/o or more with steroids

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23
Q

pseudo-hypertrophy of weak muscles common in

A

DMD - calf muscles

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24
Q

does weakness progress with DMD

A

yes

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25
Q

what muscles typically become weak earliest in DMD

A

proximal muscles

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26
Q

what causes exaggerated lumbar lordosis in DMD

A

weak hip and knee extensors

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27
Q

_____ is a compensation by the child to attempt to align the center of gravity anterior to the fulcrum of the knee joint and posterior to the fulcrum of the hip joint in DMD

A

lordosis

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28
Q

describe BOS, gait pattern and other key characteristics of DMD

A
  • wide BOS
  • ER/toe out
  • waddling gait pattern
  • ITB contractures
  • gower’s sign
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29
Q

contractures with DMD progression

A
  • typically PF, inversion
  • hip flexion
  • knee flexion (in WC)
  • elbows, shoulders, long finger flexors
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30
Q

DMD most kids are able to walk, climb stairs, and stand up from floor until what age and then will see rapid decline in function

A

6-7

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31
Q

when is loss of unassisted ambulatory function seen in kids with DMD

A

9-10

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32
Q

any kid who remains ambulatory after age 13 is considered to have

A

BMD or an intermediate phenotype

33
Q

used to assess function

A

functional ability grading system (UE and LE)

34
Q

mildest of x-linked progressive dystrophies

A

BMD

35
Q

ambulation till what age with BMD

A

16 or slightly beyond

36
Q

slower breakdown of muscle than DMD –> some dystrophin produced

A

BMD

37
Q

when is BMD present

A

5-15

38
Q

what is intermediate MD

A

loss of ambulation between 13-16th birthday

39
Q

life expectancy of BMD

A

40

40
Q

body structures impaired with BMD

A
  • scoliosis
  • respiratory involvement
  • GI system
  • cardiac
  • cognition
41
Q

what is often the cause of death in BMD

A

respiratory involvement –> nocturnal hypoventilation

42
Q

interventions for MD

A
  • flexibility
  • stretching
  • bracing/night splints
  • serial casting
  • prolong functional capacity
  • no aggressive strengthening
  • NO ECCENTRICS
  • sub max endurance training (no post exercise soreness, pool or bike, concentric exercises)
  • assistive technology
  • adaptive equipment
43
Q

autosomal dominant disorder to chromosome 19

A

myotonic dystrophy

44
Q

sx typically seen during adolescents with myotonia (delay in muscle relaxation time, muscle weakness)

A

myotonic dystrophy (DM1)

45
Q

c/o of myotonic dystrophy

A

weakness and stiffness

46
Q

characteristics of myotonic dystrophy

A
  • a characteristic long thin face with temporal and masseter muscle wasting, frontal balding, wasting of SCM
  • Distal wasting and weakness, foot drop, difficulty opening jars
47
Q

Progressive muscular dystrophies that affect proximal musculature

A

LGMD

48
Q

onset of LGMD

A

variable, child to adulthood

49
Q

Interneuron abnormality and loss of anterior horn cells

A

SMA

50
Q

what are the 3 types of SMA based on

A

maximal ability of child

51
Q

child never learned to sit

A

SMA type I

52
Q

child learns to sit but never learns to walk w/o AD

A

SMA type II

53
Q

child walks independently

A

SMA type III

54
Q

SMA genetics

A
  • Autosomal recessive inheritance pattern
  • Gene defect on 5q13
  • Both copies of SMN1 gene in each cell have mutations
  • Survival motor neuron (SMN) is located here
55
Q

SMA

A

survival motor neurons

56
Q

associated with diminished levels of SMN and loss of motor neurons

A

SMA

57
Q

EMG shows diminished action potentials

A

SMA

58
Q

muscle biopsies show small atrophic fibers interspersed with groups of large hypertrophic fibers

A

SMA

59
Q

are the lack of innervation to the motor unit

A

atrophic fibers

60
Q

all kids with SMA have

A

absent DTRs, sensation intact as is cognition

61
Q

Werdnig-Hoffman Disease

A

SMA type I

62
Q

noted in first 3 months of life, decreased movements in womb, axial hypotonicity, difficulty feeding

A

SMA Type I

63
Q

head lag pull to sit, drape over hand in landau, legs in abd/flex (froglegged), arms move with elbows on support surface

A

SMA type I

64
Q

cannot maintain head in midline, limited ability to take food by mouth, limited respiratory function, paradoxical pattern of breathing, pulmonary infections

A

SMA type I

65
Q

survival age SMA type I

A

less than 2 years without aggressive pulmonary management

66
Q

when does SMA Type II present by

A

Presents later in 1st year of life

67
Q

Can sit but cannot pull to stand
Proximal weakness, wasting of extremities and trunk musculature
Fasciculations of tongue common
Resting tremors
Delay in acquisition of gross motor skills

A

SMA type II

68
Q

Prone and quadruped most difficult due to inability to control head
Contracture formation at knee flex, PF, elbow flexors and wrist flexors
Pts might walk but not independently, use bracing or AD
Ambulation not usually functional for short distances
KAFOs for standign programs

A

SMA type II

69
Q

75% of SMA type II can sit until ____ and 50% can sit until ___

A

7
14

70
Q

survival SMA type II

A

into adulthood but susceptible to pulmonary infections

71
Q

Kugleberg-welander disease

A

SMA III

72
Q

Progressive weakness, absent reflexes, fasciculations

A

SMA type III

73
Q

presentation onset SMA type iii, what age correlated to poorer outcomes

A
  • toddlers to adulthood (adulthood = type IV)
  • < 2 onset = poor
74
Q

SMA interventions/tx

A

Develop sequencing/facilitation/handling
Strengthening!!
ROM/splinting
positioning/adaptive equipment (wedges/towel rolls, slings/springs, switch toys)
Power mobility (18mo - 2 y/o)
Bath equipment

75
Q

why can you strength with SMA

A

bc due to lack of innervation, NOT muscle destruction

76
Q

hereditary motor and sensory neuropathy; caused by mutations in genes that produce proteins responsible for structure/function of peripheral N axon or myelin sheath

A

charcot-marie-tooth (CMT) disease

77
Q

nerves slowly degenerate, resulting in muscle weakness and atrophy, and reduced ability to feel heat, cold and pain

A

charcot-marie-tooth (CMT) disease

78
Q

typical features charcot-marie-tooth (CMT) disease

A

foot drop (hallmark); high stepped gait; high arches; hammertoes; later onset of muscle atrophy in hands (fine motor deficits); onset of sx is adolescents or early adulthood; progression gradual; typical life expectancy

PT 641 Peds (16 decks)

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