Topics in Peds > DMD and SMA > Flashcards

DMD and SMA Flashcards

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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
School aged/Middle ambulatory phase timed functional tests
- 10m Walk-Run - Supine to stand - 6MWT - Climbing 4 stairs
26
What else should you test in the middle ambulatory phase (school aged)
- MMT - Dynamometry (hip/knee extension) - ROM - Respiratory Function Testing (chest wall expansion, ability to cough and clear secretions, FVC)
27
Goals of rehabilitation in Middle ambulatory phase (school aged)
- 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
What is an absolute no no ever never never never never do?
Eccentric exercise or resistance training
29
submax exercise for middle ambulatory phase (school age)
- train abdominals, hip extensors and abductors, knee extensors - Aerobic: cycling and swimming
30
Training inhalation and exhalation for middle ambulatory phase (school-aged)
- 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
Assistive technology during middle ambulatory phase (school age)
during transition - introduce motorized scooter vs manual wheelchair
32
School-aged: middle ambulatory phase more interventions
- comfortable stretching program (night splinting) - Monitor scoliosis
33
school aged: middle ambulatory phase: when should you initiate standing program?
prior to loss of ambulation
34
Cessation of ambulation in DMD
- 50% reduction in leg strength - MMT <3 hip extensors, MMT < 4 ankle DF
35
Four step climb
5-12 seconds: cessation of unassisted walking within 2.4 years > 12 seconds: cessation of unassisted walking within 1.5 years
36
10MWT Predicting Cessation of ambulation
> 9 seconds and inability to risk from floor = cessation within 2 years > 12 seconds = cessation within 1 year
37
in Adolescence/Late ambulatory/early non-ambulatory phase there is a significant disability progression as a result of:
- progressive muscle weakness - development of contractures
38
In Adolescence/Late ambulatory/early non-ambulatory phase there is....
- increased difficulty with transfers and general mobility - cessation of walking - must recognize signs that portray changing status - provision of ADs
39
PT interventions for Adolescence/Late ambulatory/early non-ambulatory phase
- Prolong standing and ambulation - Caregiver training - Transfers - Bed mobility - Positioning program - Assistive technology/DME - Home modifications
40
Interventions for Adulthood/Late Non-Ambulatory phase
- provision of ADs - breathing exercises, postural drainage, intermittent pressure breathing, CPAP, mechanical ventilation
41
Gold standard medication for DMD
glucocorticosteroids
42
What is spinal muscular atrophy
- Primarily autosomal recessive - Lower motor neuron disorder (progressive muscle weakness, atrophy, hypotonia/areflexia) - Loss of anterior horn cells in SC
43
What are survival Motor neurons?
- 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
SMA Type I
Onset: 0-6 months Death: <2 years Do not sit
45
SMA Type II
Onset: 7-18 mo Death: > 2 years Usually do not stand
46
SMA Type III
Onset: > 18 mo Death: Adult Stands and Walks
47
Features of Type I SMA (Werdnig-Hoffmann)
- 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
PT MAnagement Type I
- Weakness - Positioning Program - Contractures - ROM exercises - Respiratory Care - Interventions - Improve feeding and swallowing mechanics
49
Type I - Weakness
* Proximal musculature of the neck, trunk, shoulder girdle, and pelvic girdle – limited anti-gravity movement Positioning program
50
Type I- Positioning Program
* 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
Type I- Contractures
* Talipes equinovarus (clubfoot) * Additional flexion contractures resulting from fetal akinesia (hip, knee, elbow) * Positional torticollis (muscle weakness vs. shortness)
52
Type I- ROM Exercises
* Promote flexibility and comfort * Also consider limited strengthening activities (weighted toys)
53
Type I- Respiratory Care
*Typically require intubation/mechanical ventilation
54
Type I- Interventions
*Suctioning *Assisted coughing *Postural drainage *Supported sitting while monitoring spinal alignment *Use of abdominal binder *Close monitoring in supported sitting
55
SMA Type II Features
* Progressive proximal weakness/ hypotonia --> LE’s > UE’s * Postural hand tremor * Hyporeflexia * Average/Above average intellect * Joint contractures * Scoliosis and restrictive airway disease
56
PT Management - Type II
*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
Type II in School Years - Adaptive Equipment
* 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
Type II - PT Management in School Years
- Adaptive equipment - ROM exercises (bracing and contracture management - Respiratory care - Breathing exercises and postural drainage - nutrition and weight management
59
Type II - PT management transition into adulthood
- continued used of adaptive equipment and contracture management (personal caregiver, vocational rehab) - respiratory care is priority --> breathing exercises and postural drainage
60
Type III Features
* May have hand tremor * Mild progressive weakness * LE’s > UE’s * Resembles Becker Muscular Dystrophy
61
Type III - Impairments in school years
- 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
Type III Most common impairments in school years
* Lower extremity weakness * Postural compensations (Trendelenburg) resulting from weakness, joint contractures (plantar flexors), and occasional scoliosis
63
PT management in school year: Type III
- ROM - Mod intensity strengthening - Functional training - Adaptive equipment (scooter for long community distance) - orthotic support
64
SMN1 Gene replacement therapy
- deliver new DNA from healthy SMN1 gene via vector - Children < 2 - One time IV infusion
65
SMN 2 Gene modulation therapy
- 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
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