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Neuromuscular Conditions II > DMD & SMA > Flashcards

DMD & SMA Flashcards

1
Q

Heritability of a Disease

A

The proportion of variation in the phenotype attributable to variation in genetic factors among individuals

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2
Q

4 Bases to DNA molecules

A

Adenine
Thymine
Guanine
Cytosine

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3
Q

Definition of Genetics

A

the study of heredity of traits of an organism & their variations within a population – a single gene

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4
Q

Definition of Genomics

A

the study of genomes or the complete set of genetic material of an organism – interactions between genes

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5
Q

Definition of Epigenetics

A

the study of inheritable changes in the organisms caused by the modification of gene expression – biologic and environmental signals determine gene expression

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6
Q

Disorders of the LMN (anterior horn cells of the spinal cord and peripheral nerves)

A

SMA
Polio
PN palsies
CMT
GBS
CIDP
DM

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7
Q

Disorders of the neuromuscular junction

A

Myasthenia gravis

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8
Q

Disorders of the muscles

A

Muscular dystrophies

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9
Q

NM Diseases that also include UMN involvement

A

ALS

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10
Q

Neurologic diseases of specific areas of the CNS

A

MS
CB diseases
Cerebral (dementia) Diseases
PD
HD
Brain Tumors

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11
Q

What does DMD stand for?

A

Duchenne Muscular Dystrophy

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12
Q

DMD is what physiological difference?

A

Absence of dystrophin, leading to muscle breakdown

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13
Q

What happens with a lack of dystrophin?

A
  • ischemic damage to muscles
  • free radical damage
  • calcium overload
  • failure to regenerate muscle
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14
Q

Age of onset for DMD

A

~3-5 years old

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15
Q

Classic gait pattern for those with DMD

A

toe walking
wide base/stance
excessive lordosis
big arm swings
waddle

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16
Q

DMD course of disease lower body

A
  • Gower’s
  • Inability to stand from floor
  • Inability to climb stairs
  • Inability to stand from chair
  • Loss of ambulation (~10 years)
17
Q

DMD course of disease upper body

A
  • Inability to reach overhead
  • Inability to roll in bed
  • FVC 50% and need for cough assist
  • Inability to feed self
  • Inability to bring hands to table
  • Loss of cell phone/gaming use
18
Q

DMD common comorbidities

A
  • Pulmonary – restrictive lung disease
  • Cardiac – cardiomyopathy
  • Endocrine – steroid related (growth, obesity, bone health, cataracts, delayed puberty)
  • Orthopedic – scoliosis, contractures, fractures
  • Cognitive/Behavioral – anxiety, OCD, autism, learning differences
19
Q

At what age do most boys lose ambulation? (DMD)

A

10-12 years old

20
Q

At what age do many patients require noninvasive ventilator support at night? (DMD)

A

15 years old

21
Q

What are the benefits of glucocorticosteroids for DMD?

A

Prolongs walking, supine to stand, hand to mouth function by 2 years and delays scoliosis and preserves lung function

22
Q

What is standard to be examined every 6 months with DMD?

A

function
strength
ROM
Monitor scoliosis

23
Q

North Star Ambulatory Assessment - 4 key score thresholds (DMD)

A
  • score of 27/34 declines at 8 points/year
  • score of 9, loss of ambulation within 12 mo.
  • score of 13, loss of ambulation within 24 mo.
  • score 18+ reassured walking for 2 years
24
Q

Time for 4 Stairs - time threshold (DMD)?

A

> 8 seconds predictor of loss of ambulation within 6-12 months

25
Q

Time to rise from floor - time threshold (DMD)?

A

> 30 seconds predictor of loss of ambulation within 6-12 months

26
Q

Time for 10 M Run/Walk - time threshold (DMD)?

A

> 12 seconds predictor of loss of ambulation within 6-12 months

27
Q

6 Minute Walk Test - time threshold (DMD)?

A
  • 30 m change is clinically significantly
  • <350 m at risk for losing ambulation
28
Q

5 general categories for intervention (DMD)

A
  • stretching
  • strength
  • breathing
  • physical fitness
  • equipment
29
Q

Interventions for DMD’s Early Ambulatory Stage (6)

A
  • stretching
  • night splinting
  • school modification 504 plan
  • strength
  • parent/child education
  • aquatics
30
Q

Interventions for DMD’s Transitional Stage (6)

A
  • activity and respiratory exercise
  • aquatic exercise
  • education of school personnel and family on transfers
  • home accessibility
  • UE strengthing
  • Post-op interventions
31
Q

Interventions for DMD’s Late Non-Ambulatory Stage (6)

A
  • equipment
  • respiratory management
  • aquatic exercise
  • pain
  • palliative care
  • post-op ortho function
32
Q
A

Neuromuscular Conditions II (2 decks)

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