Week 5- Miscellaneous Diagnoses Flashcards
1
Q
PART 1
A
PART 1
2
Q
Neuromuscular Diseases:
- Includes disorders of the _________, _________, and _______.
- No cure does not mean no treatment!
- What are the roles of the PT?
A
- motor neuron, neuromuscular junction, muscle
- Assist of identification, treatment of impairments, activity limitations, and participation restrictions
3
Q
What is Muscular Dystrophy?
A
- Group of hereditary myopathies.
- Progressive muscle weakness, deterioration, destruction, and regeneration of muscle fibers
4
Q
In Muscular Dystrophy, muscle fibers are gradually replaced by ________ and ______ tissues.
A
fibrous and fatty tissues
5
Q
What are (5) different types of Muscular Dystrophy?
A
- Becker
- Congenital
- Congenital/myotonic
- Child onset facioscaphum
- Emery-Dreifus
6
Q
1
A
1
7
Q
1
A
1
8
Q
1
A
1
9
Q
1
A
1
10
Q
1
A
1
11
Q
Duchenne’s Muscular Dystrophy (DMD):
- One of the most ________ and _________.
- Death usually due to __________ and ___________ insufficiency.
- Many are surviving into 30s.
- Incidence between 1-3500 ______ births.
A
- prevalent and disabling
- respiratory and cardiorespiratory
- males
12
Q
Duchenne’s Muscular Dystrophy Etiology (DMD):
- ____-linked _________ genetic disorder of X chromosome.
- Results in a disorder of encoding __________ and __________ associated proteins (DAP).
- Dystrophin acts as an anchor in intracellular lattice to enhance _______ strength.
- Dystrophin absent from muscle tissue-fragility in muscle membrane stability during contraction and relative muscle hypoxia as a result of an aberrant vascular response to exercise.
- Early breakdown of muscle fiber plasma membrane.
- Creatine kinase (CK) ______ early in disease.
- Muscle biopsy shows degeneration with loss of fiber, variation in fiber size, and a proliferation of CT and adipose tissue.
A
- Sex-linked recessive genetic disorder
- dystrophin and dystrophin associated proteins (DAP)
- tensile strength
- CK elevated
13
Q
Duchenne’s Muscular Dystrophy (DMD) Clinical Presentation:
- _________, may be misdiagnosed.
- What are the early symptoms?
- What is Gower’s sign?
- Intellectual and emotional impairment.
A
- insidious
- Early symptoms: reluctance to walk/run at appropriate ages, falling, stair difficulty, toe walking, clumsiness, pseudohypertrophy
- Gower’s Sign = initial weakness of neck and trunk flexors, hip extensors, interscapular muscles
14
Q
Duchenne’s Muscular Dystrophy (DMD) S/Sx:
- ________ muscles tend to be weaker early in disease.
- Early weakness in _____ and _____ extensors.
- Exaggerated lordosis, wide BOS, waddling gait, IT band contractures, heel cord contractures as progression
- Loss of unassisted ambulation at ages __-__.
A
- proximal
- hip and knee extensors
- 9-10
15
Q
What are some surgical management techniques of DMD deformity?
A
- Muscle release (achilles, fasciotomy of TFL and IT bands)
- Scoliosis stabilization
16
Q
What are some things done during PT Eval of DMD?
A
- History with family and child concerns
- Aerobic capacity and endurance – pulmonary function testing
- Assistive/adaptive devices
- Community/work integration
- Environmental barriers
- Gait, locomotion, and balance
- Integumentary status (when using orthotics, wheelchairs, adaptive equipment)
- Muscle performance – MMT, dynamometer, strain gauge devices
- Neuromotor development
- Orthotic, protective, and supportive devices
- Posture
- ROM
- Self-care and home management
- Ventilation/respiration
17
Q
Evidence Based Tests and Measures for DMD. (5)
A
- Northstar Ambulatory Assessment
- The Performance of Upper limb for Duchenne
- Brook Scale
- Vignos Scale-Box 12.2
- Egen Klassifikation Scale
18
Q
DMD Prognosis:
- Timed ________ activities closely related to muscle strength and predictive loss of ambulation.
- 10m walk/run >__s and inability to __________ predict loss of ambulation within __ years.
- 10m walk time >__s predicts loss of ambulation within __ years.
A
- timed functional activities
- > 9s and inability to rise from floor, 2 years
- > 12s, 1 year
19
Q
What are the roles of the PT in DMD? (5)
A
- Early diagnosis
- Education, referral, support for family
- Prolong function, prevent contractures and deformities, adapt equipment, encourage peer/community interaction
- PAIN control (many have spasms and pain), massage and gentle stretching appear to help
- Weight control, sleep/respiratory concerns, B&B concerns
20
Q
PART 2: DMD PT INTERVENTIONS
A
PART 2: DMD PT INTERVENTIONS
21
Q
DMD PT Intervention - Infancy (Preschool Age):
- May see _______ related to weakness.
- Mild tightness of ________ and ______.
- Family support/education.
- Consider daily _____ and night _________.
A
- DD (developmental delay)
- gastroc and TFL
- daily ROM and night splinting
22
Q
DMD PT Intervention - Early School Age Period:
- Limitations in activity _____ apparent - clumsiness, falling, difficulty with stairs, rise to stand, running
- _______ deviations - increased BOS, compensated Trendelenburg, toe walking, lordosis with shoulder retraction, lack of arm swing
A
- more apparent
- gait deviations
23
Q
What are the goals of PT intervention with Early School Age Period? (4)
A
- Family support/education.
- Obtain baseline data on ROM/MMT.
- Monitor progression.
- Maintain flexibility (especially at ankle).
24
Q
DMD Early School Age Period (STRENGTH):
- Strength and exercise is _________.
- Widely accepted that ________ exercise and __________ are detrimental.
- Graded resisted exercise controversial.
- What are the key muscles to consider?
- Cycling, swimming, standing 2-3 hours daily.
A
- controversial
- eccentric and immobilization
- abdominal, hip extensor and abductor, knee extensors
25
Q
DMD Early School Age Period (ROM):
- Can we prevent contractures?
- What are some key LE muscles to stretch? (3) Include stretching recommendation.
- ____________ in combination with ________ effective and can prolong ambulation.
A
- May not be able to prevent contractures, but can slow their development.
- gastric, hams, TFL (1-2x/day, 10reps, 30-60s holds)
- night splints in combination with daily stretching
26
Q
DMD Early School Age Period (RESPIRATORY):
- What do we want to measure in regards to respiratory function?
- Breathing exercises and inspiratory muscle training
A
-RR, chest wall excursion, coughing, secretion clearing, spirometry
27
Q
DMD Early School Age Period (FALL RISK):
- As weakness progresses, what do we need to consider?
- Risk of falls if ambulation continues past when it is feasible.
- Risk for ________ increases once child is nonambulatory.
A
- Consider other mobility options (WC, scooters, electric WC)
- scoliosis
28
Q
DMD PT Intervention - Adolescent Period:
- Time of considerable deterioration in function leading to what?
- What are some UE considerations at this stage?
A
- loss of walking, reliance of powered mobility
- encourage participation in ADLs, adaptive equipment for self feeding, UE ergometry program, focus on maintenance of muscles for transfers
29
Q
DMD Adolescent Period (ROM):
- Do we continue with stretching?
- What muscles may be added to stretching?
A
- Yes, gentle stretching continued
- hip flexors, long finger flexors, shoulder, elbow, forearm and wrist
30
Q
DMD Adolescent Period (RESPIRATORY):
- Position of ______ is crucial.
- What position is best to prevent scoliosis?
A
- spine
- neutral to slightly extended (loads facet joints to prevent rotation/lateral flexion)
31
Q
DMD Adolescent Period (AMBULATION):
- Continuation of standing/walking.
- ________ strongly encouraged.
- Bracing and therapeutic walking may be based on what things?
- _________ correction may be needed to prolong ambulation.
A
- standers
- obesity, residual muscle, strength, absence of severe contractures, timely application of braces, motivation of family and child
- surgical correction
32
Q
DMD Adolescent Period (FUNCTION):
- Functional mobility/equipment
- Stand pivot replaced by _______.
- Sliding board inappropriate.
- Toilet/shower equipment (consider _______ to decrease need for transfers).
- Powered mobility
- _____ can help.
A
- lifts
- urinal
- MDA
33
Q
DMD PT Intervention - Adulthood Period:
- After age ____, FVC and PEF decline.
- What are 2 contributing factors to death?
- Assisted ventilation can prolong life.
- Breathing exercises, postural drainage.
A
- 18
- respiratory failure and infection
34
Q
PART 3: SMA (SPINAL MUSCULAR ATROPHY)
A
PART 3: SMA (SPINAL MUSCULAR ATROPHY)
35
Q
What are the (3) different types of SMA?
A
- Infantile (Werdnig-Hoffman)
- Intermediate Type II
- Juvenile (Kugelberg-Welander)
36
Q
SMA:
- All are autosomal _________ disorders located on chromosome 5.
- Affect ______ horn.
- Associated with wasting/weakness of muscles.
- Are there sensory disturbances?
A
- autosomal recessive
- anterior horn
- No sensory disturbances
37
Q
What are some ways SMA is diagnosed? (5)
A
- Clinical Presentation
- EMG
- Muscle Biopsy/US
- Genetic Testing
- Normal Cardiac Tissue
38
Q
Infantile (Werdnig-Hoffman) SMA:
- Almost always noted in first __ months of life.
- Often _______ fetal movement.
- _______ but appears alert and responsive.
- Difficulty feeding, respiratory distress.
- Muscle wasting with few spontaneous movements.
- _____ decreased or absent.
- Limited lifespan, respiratory failure.
A
- 3 months
- decreased
- hypotonia
- DTRs
39
Q
Infantile (Werdnig-Hoffman) SMA:
- What are some secondary impairments of Infantile SMA? (4)
- What are some PT interventions that can be utilized with these patients?
- Limited use of ______ due to difficulty lifting head, inhibition of abdominal expansion and diaphragmatic depression.
- Breathing may become difficult in upright as well.
A
- scoliosis, contractures, decreased respiratory capacity, fatigability
- ROM, feeding, positioning, respiratory care, select developmental activities, assistive technology
- prone
40
Q
Intermediate (Type II) SMA:
- Also affects infants, but is it more or less severe than Infantile SMA?
- Floppy, slow to develop motor milestones.
- Usually diagnoses __-__m of age.
- Weak ______/_________ with muscle atrophy.
- Few have feeding problems.
- Fine extremity _________.
- May or may not learn to _____.
- Most require ______ intervention.
A
- less severe
- 3-6m
- trunk/extremities
- tremors
- walk
- orthotic
41
Q
What are (4) goals of Intermediate SMA?
A
- Encourage stance
- Prevent deformity
- Respiratory interventions
- Adapt play and writing tools
42
Q
Juveline (Kugelberg-Welander) SMA:
- Diagnosed between __-__ years.
- _____ progressive weakness with mild impairment.
- Are proximal or distal muscles usually involved first?
A
- 1-10 years
- slowly progressive
- proximal muscles
