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Topics in Peds > DMD and SMA > Flashcards

DMD and SMA Flashcards

1
Q

What causes Duchenne Muscular Dystrophy?

A

mutation in gene that encodes for dystrophin

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2
Q

2/3 cases of Duchenne muscular dystrophy are…

A

x-linked, recessive, myogenic disorders

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3
Q

1/3 cases of Duchenne muscular dystrophy are..

A

random spontaneous genetic mutations that occur during pregnancy

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4
Q

When do males with Duchenne muscular dystrophy typically lose the ability to walk?

A

early teenage years

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5
Q

what is the life expectancy of males with Duchenne muscular dystrophy?

A

early 20’s

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6
Q

Characteristic of dystrophin:

A

*Protein inside surface of the sarcolemma
* Increases sarcolemma deformability, maintains muscle cell structure and function
* “Shock absorber”: allows muscles to contract and relax
without damage
* Links actin and other support proteins
* Supports muscle fiber strength, reduces stiffness

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7
Q

Lack of dystrophin leads to…

A

intolerance of mechanical forces present during muscle contraction

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8
Q

Nervous symptoms signs and symptoms of DMD

A
  • developmental delay
  • motor delay
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9
Q

cognition signs and symptoms of DMD

A
  • learning disability
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10
Q

gastrointestinal signs and symptoms of DMD

A
  • dysphagia
  • constipation
  • reflux
  • gastroparesis
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11
Q

respiratory signs and symptoms of DMD

A
  • respiration insufficiency
  • sleep apnea
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12
Q

musculoskeletal signs and symptoms of DMD

A
  • muscle weakness (Gower’s Signs; proximal to distal)
  • fatigue
  • muscle cramps
  • difficulty walking and climbing stairs
  • gait abnormalities
  • contractures
  • psuedohypertrophy
  • lordosis and scoliosis
  • neck weakness
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13
Q

heart signs and symptoms of DMD

A

cardiomyopathy

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14
Q

Calf Muscle Pseudohypertrophy

A
  • apparent increase in size of calf muscles due to the replacement of muscle fibers by fat and connective tissue
  • frequently one of the first signs of DMD
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15
Q

Diagnosing DMD through blood test

A
  • Creatine Kinase Levels
  • Enzyme which leaks out of damaged muscles
  • Elevated CK levels indicate muscle disintegration
  • Peak at 10-20x normal value by age 2-3, then fall at ~25% per year as muscle is replaced with fat and fibrotic tissue
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16
Q

Diagnosing DMD through genetic testing

A
  • Genetic mutation – deletions
  • Carrier screening
  • Important –> Research trials and medications now are specific to genetic mutation
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17
Q

Diagnosing DMD through muscle biopsy

A
  • Previously frequently performed, now rare
  • Distinguish among different types of muscular dystrophies
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18
Q

How else can DMD be diagnosed?

A

by clinical presentation

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19
Q

Infancy - Early Childhood: Early Ambulatory Phase

A
  • Few impairments, activity limitations or participation restrictions seen
  • Delayed onset of ambulation
  • 50%: fail to walk until 18 months of age
    *Decreased growth velocity –> shorter stature
    *Unless there is a family history of DMD, symptoms are not typically noticed (Dx around 4-5/yo)
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20
Q

What is the goal of rehabilitation in the early ambulatory phase?

A

Education and support

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21
Q

School-aged: Middle Ambulatory Phase

A
  • Initial observations: clumsiness, falling, inability to keep up with peers while playing
  • difficulty with stairs, standing up from floor (Gower’s sign)
  • Fatigue (8-10) –> restrictive pulmonary disease
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22
Q

initial gait of school aged (middle ambulatory phase)

A
  • increased lateral trunk sweat, increased with running
  • Progressive deviations (compensatory to shift center of mass forward and promote stability): increased base of support, compensated Trendelenburg, toe walking for knee stabilization, in-toeing, shoulder/scapular retraction, lack of reciprocal arm swing
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23
Q

Contractures likely to occur during school-aged/middle ambulatory phase

A
  • plantar flexors
  • hip abductors
  • hip flexors
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24
Q

School - aged/ middle ambulatory phase - PT Examination

A
  • Brooke Scale (UE Function)
  • Vignos Scale (LE Function)
  • PEDI
  • School Function Assessment
  • Wee-FIM
  • North Star Ambulatory Assessment (used in majority of clinical trials)
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25
Q

School aged/Middle ambulatory phase timed functional tests

A
  • 10m Walk-Run
  • Supine to stand
  • 6MWT
  • Climbing 4 stairs
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26
Q

What else should you test in the middle ambulatory phase (school aged)

A
  • MMT
  • Dynamometry (hip/knee extension)
  • ROM
  • Respiratory Function Testing (chest wall expansion, ability to cough and clear secretions, FVC)
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27
Q

Goals of rehabilitation in Middle ambulatory phase (school aged)

A
  • education and support
  • baseline and longitudinal examination
  • preventative measures to maintain muscle strength and integrity
  • contracture prevention
  • appropriate exercise/activity
  • Support for function and participation
  • provision of equipment
28
Q

What is an absolute no no ever never never never never do?

A

Eccentric exercise or resistance training

29
Q

submax exercise for middle ambulatory phase (school age)

A
  • train abdominals, hip extensors and abductors, knee extensors
  • Aerobic: cycling and swimming
30
Q

Training inhalation and exhalation for middle ambulatory phase (school-aged)

A
  • inflation balloons
  • blowing through straws
  • incentive spirometers
  • Goals: slow the loss of vital capacity, decrease the severity of symptoms of colds and pulmonary infections
31
Q

Assistive technology during middle ambulatory phase (school age)

A

during transition - introduce motorized scooter vs manual wheelchair

32
Q

School-aged: middle ambulatory phase more interventions

A
  • comfortable stretching program (night splinting)
  • Monitor scoliosis
33
Q

school aged: middle ambulatory phase: when should you initiate standing program?

A

prior to loss of ambulation

34
Q

Cessation of ambulation in DMD

A
  • 50% reduction in leg strength
  • MMT <3 hip extensors, MMT < 4 ankle DF
35
Q

Four step climb

A

5-12 seconds: cessation of unassisted walking within 2.4 years
> 12 seconds: cessation of unassisted walking within 1.5 years

36
Q

10MWT Predicting Cessation of ambulation

A

> 9 seconds and inability to risk from floor = cessation within 2 years
12 seconds = cessation within 1 year

37
Q

in Adolescence/Late ambulatory/early non-ambulatory phase there is a significant disability progression as a result of:

A
  • progressive muscle weakness
  • development of contractures
38
Q

In Adolescence/Late ambulatory/early non-ambulatory phase there is….

A
  • increased difficulty with transfers and general mobility
  • cessation of walking
  • must recognize signs that portray changing status
  • provision of ADs
39
Q

PT interventions for Adolescence/Late ambulatory/early non-ambulatory phase

A
  • Prolong standing and ambulation
  • Caregiver training
  • Transfers
  • Bed mobility
  • Positioning program
  • Assistive technology/DME
  • Home modifications
40
Q

Interventions for Adulthood/Late Non-Ambulatory phase

A
  • provision of ADs
  • breathing exercises, postural drainage, intermittent pressure breathing, CPAP, mechanical ventilation
41
Q

Gold standard medication for DMD

A

glucocorticosteroids

42
Q

What is spinal muscular atrophy

A
  • Primarily autosomal recessive
  • Lower motor neuron disorder (progressive muscle weakness, atrophy, hypotonia/areflexia)
  • Loss of anterior horn cells in SC
43
Q

What are survival Motor neurons?

A
  • gene that creates SMN protein, which is essential to maintain the integrity of motor neurons
  • SMA = deletions or mutations in both copies of SMN1
  • An exotic splicing suppressor (ESS) at position 6 of SMN2 leads to skipping of exon 7
  • Results in truncated, non-functional SMN protein
44
Q

SMA Type I

A

Onset: 0-6 months
Death: <2 years
Do not sit

45
Q

SMA Type II

A

Onset: 7-18 mo
Death: > 2 years
Usually do not stand

46
Q

SMA Type III

A

Onset: > 18 mo
Death: Adult
Stands and Walks

47
Q

Features of Type I SMA (Werdnig-Hoffmann)

A
  • 60% of children with SMA
  • Severe weakness at birth
  • Profound hypotonia
  • Frog legged posture
  • Hyporeflexia/Areflexia
  • Joint contractures
  • Suck-swallow difficulties
  • Poor head control
  • Respiratory Failure
  • Belly breathing
  • Tongue fasciculations
48
Q

PT MAnagement Type I

A
  • Weakness
  • Positioning Program
  • Contractures
  • ROM exercises
  • Respiratory Care
  • Interventions
  • Improve feeding and swallowing mechanics
49
Q

Type I - Weakness

A
  • Proximal musculature of the neck, trunk, shoulder girdle, and pelvic girdle –
    limited anti-gravity movement
    Positioning program
50
Q

Type I- Positioning Program

A
  • Wedges, towel rolls and bolsters to avoid supine in the presence of respiratory
    distress
  • Side-lying to promote play in a gravity eliminated position
  • Prone not typically recommended because of the effort/strength required to
    right the head
51
Q

Type I- Contractures

A
  • Talipes equinovarus (clubfoot)
  • Additional flexion contractures resulting from fetal akinesia (hip, knee, elbow)
  • Positional torticollis (muscle weakness vs. shortness)
52
Q

Type I- ROM Exercises

A
  • Promote flexibility and comfort
  • Also consider limited strengthening activities (weighted toys)
53
Q

Type I- Respiratory Care

A

*Typically require intubation/mechanical ventilation

54
Q

Type I- Interventions

A

*Suctioning
*Assisted coughing
*Postural drainage
*Supported sitting while monitoring spinal alignment
*Use of abdominal binder
*Close monitoring in supported sitting

55
Q

SMA Type II Features

A
  • Progressive proximal weakness/ hypotonia –> LE’s > UE’s
  • Postural hand tremor
  • Hyporeflexia
  • Average/Above average intellect
  • Joint contractures
  • Scoliosis and restrictive airway disease
56
Q

PT Management - Type II

A

*Promotion of independent sitting –> Spinal orthoses (TLSO)
*Custom molded back support in wheelchair
*Standing –> If not independent by 16-18 months, include standing program with supine stander to promote WB (reduce fracture risk)
*Ambulation –> Rarely means of primary mobility

57
Q

Type II in School Years - Adaptive Equipment

A
  • Powered mobility with custom molded seat/ back to accommodate to spine deformity
  • Consider alternating joystick position to promote postural symmetry
  • Power-assist manual w/c
58
Q

Type II - PT Management in School Years

A
  • Adaptive equipment
  • ROM exercises (bracing and contracture management
  • Respiratory care - Breathing exercises and postural drainage
  • nutrition and weight management
59
Q

Type II - PT management transition into adulthood

A
  • continued used of adaptive equipment and contracture management (personal caregiver, vocational rehab)
  • respiratory care is priority –> breathing exercises and postural drainage
60
Q

Type III Features

A
  • May have hand tremor
  • Mild progressive weakness
  • LE’s > UE’s
  • Resembles Becker Muscular Dystrophy
61
Q

Type III - Impairments in school years

A
  • difficulty with higher level gross motor kills: transitioning onto/off of floor, stairs, keeping up with peers
  • gait deviations: waddling gait more apparent with running, difficulty keeping up with peers
  • Exception: UE spared
62
Q

Type III Most common impairments in school years

A
  • Lower extremity weakness
  • Postural compensations (Trendelenburg) resulting from weakness, joint contractures (plantar flexors), and occasional scoliosis
63
Q

PT management in school year: Type III

A
  • ROM
  • Mod intensity strengthening
  • Functional training
  • Adaptive equipment (scooter for long community distance)
  • orthotic support
64
Q

SMN1 Gene replacement therapy

A
  • deliver new DNA from healthy SMN1 gene via vector
  • Children < 2
  • One time IV infusion
65
Q

SMN 2 Gene modulation therapy

A
  • Corrects SMN2 mRNA splicing –> SMN2 produces full protein
  • Prompts SMN2 to increased protein production
  • all ages and all type SMA
  • PT provides superior results in pt’s taking this drug

Topics in Peds (15 decks)

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