DMD

Question 1

What is primary impairment in muscular dystrophy.

Answer 1

Insidious weakness secondary to loss of myofibrils

Question 2

Case: You are working with a 6 year old boy whose family reports is getting tired more quickly than normal when playing. You observe the child perform Gower’s movement to rise from floor. What type of muscular dystrophy is this child most likely to have?

1) Duchenne
2) Becker
3) Ulrich
4) Congenital

Answer 2

2) Becker (age of onset 5-8)

• DMD - onset 1-4yoa
• Congenital - onset at birth

Question 3

Function of dystrophin

Answer 3

Provides mechanical reinforcement to sarcolemma to protect membrane from stresses during muscle contraction

Question 4

Which type of muscular dystrophy is most common x-linked disorder?

Answer 4

Duchenne

Question 5

Similarities/Differences between DMD and:

1) toe walking
2) CP
3) DCD

Answer 5

1) Toe walking, frequent falls, poor trunk control / sensory issues and balance concerns
2) Falling, difficulty walking, difficulty getting up from floor / Spasticity
3) Falling, clumsy, gait difficulties

Question 6

Clinical features of DMD for following body parts:

1) Calf (2)
2) Back (3)

Answer 6

1) Pseudohypertrophy and limited ROM

2) Scoliosis, lordosis, and scapular winging

Question 7

1) Common blood test done when MD is suspected

2) are results of test high or low?

Answer 7

1) Creatine kinase

2) High (over 5,000 indicates something is happening to muscle)

Question 8

Test that can specifically show changes in muscle tissue

Answer 8

Muscle biopsy

Question 9

What medication can be used to help maintain independent walking and slow scoliosis progression.

Answer 9

Steriods

Question 10

Case: You are working with a 2 year old child with DMD who has difficulty walking up stairs, rising from the floor, and increased calf tightness compared to 6 months ago), Despite these difficulties, the child has improved their ability to jump. Mom reports that the specialist recommended initiating corticosteroids but the mom doesn’t see the point since the child is progressing and says “we can just start when he is no longer progressing”. What would be good to educate mother on?

Answer 10

Steroids help to maintain ambulation skills for several years but should be initiated BEFORE functional plateau

Question 11

S/S of DMD in early school age children

Answer 11

1) clumsiness/falling
2) difficulty keeping up w peers
3) waddling gait that is more pronounced w attempts to run
4) running/jumping not present
5) Gowers
6) difficulty climbing stairs or rising from floor
7) PF contracture
8) progressive ℅ fatigue w walking (around 8-10 yoa)

Question 12

3 specific DMD outcome measures

Answer 12

1) PUL Version 2.0
2) EK Scale (Egen Klassifikation)
3) Northstar Ambulatory Assessment (NSAA)

Question 13

Which outcome measure is best when child is in wheelchair?

Answer 13

EK Scale

Question 14

You are using the NorthStar Assessment to determine functional capacity in a child with DMD. The child scores 5/34 on the testing. Does this indicate high or low disability?

Answer 14

High (lower the score, the less functional ability)

Question 15

General stretching recommendations for DMD

Answer 15

30-60sec x5 for each position in PAINFREE RANGE

Question 16

You are working with a 10 year old boy with has DMD. During the session, you notice that the child is showing signs of fatigue. How should you adapt the exercise?

1) Continue at current exercise parameters with no rest
2) Give child rest break then resume prior parameters, with more rest breaks when fatigue presents
3) Reduce exercise intensity to avoid exhaustion

Answer 16

3) - Avoid exhaustion

Want to avoid “overwork weakness”

Question 17

Which 3 muscles develop contracture first?

Answer 17

TFL, Soleus, Gastroc

Question 18

Most effective intervention(s) to prevent PF contracture.

Answer 18

Night splint and daily stretching

Question 19

Does scoliosis tend to present more before or after waking cessation?

Answer 19

After

Question 20

What age(s) do walking, standing, and transitions tend to cease?

Answer 20

Walking: 10-12
Standing: 12
Transitions: 12-14

Question 21

Walking loss predictive value: combine quad lag and hip ext lag and if it is below ___ deg, walking loss will occur in a few months.

Answer 21

90 deg

Question 22

Walking predictive loss value (by Brooks and colleague):
You time a child’s ability to walk up 4 steps. It takes the child 14 seconds to walk up the steps. How long (on average) will it take for the child to lose their ability to walk:
1) 1.2 years
2) 2.4 years
3) 3.6 years

Answer 22

1) 1.2 years
(2. 4 years when timing is between 5-12 seconds)

*Another value said if over 8sec, lose within 12 months

Question 23

Children with DMD most likely will require power mobility in adolescence. What position should the spine be positioned in to slow scoliosis?

Answer 23

Slight ext

Question 24

Forced vital capacity needs to be ___% of normal to qualify for surgery.

Answer 24

30%

Question 25

Muscle groups needed for:

1) Transfers
2) Feeding/hygiene

Answer 25

1) Shoulder depressors and triceps

2) Elbow flex, Shoulder flex/ABD

Question 26

Put loss of ambulatory skills in order:

1) Loss of standing from the chair
2) Loss of walking
3) Loss of standing from floor
4) Loss of stair climbing
5) Gower’s sign

Answer 26

5 > 3 > 4 > 1 > 2

Question 27

Put loss of non-ambulatory skills in order:

1) Loss of ability to reach head
2) Loss of ability to feed oneself
3) FVC 50% (need for cough assist)
4) Loss of ability to roll in bed
5) Loss of ability to use computer/phone
6) Loss of ability to get hands to table

Answer 27

1 > 4 > 3 > 2 > 6 > 5

Question 28

Loss of ambulation prediction:

Supine to stand - over ___ seconds, likely to lose ambulation in 12 months

Answer 28

30

Question 29

Northstar ambulation score of ___ reassures walking for 2 years

Answer 29

18

Question 30

12 months prior to loss of ambulation, NSAA score was ___

Answer 30

9

Question 31

What assistive device or device modification would be beneficial for the following functional issue:

1) Unable to stand 45-60 min
2) Weakness preventing self-pressure relief
3) Significant edema or knee contracture in dependent position
4) Trunk fatigue with upright sitting
5) Difficulty with standing transfer

Answer 31

1) Stander
2) Recline and tilt
3) Elevating leg rests
4) Recline with anti-shear and head rests
5) Seat elevator

Question 32

You are re-testing a child who you see that that has DMD who takes 5 seconds to complete the 10 meter walk/run test and showed a 40 meter decrease in his 6MWT (initial testing was 1,000 meters). What do each of these values tell you about his predictive ambulation loss timeline?

Answer 32

10 meter walk/run: continued ambulation within a year
(if over 10 sec, loss of amb within a year)

6MWT: 20+ meter change is clinically significant. But it is over 350 meters (350 meters=risk of losing amb)

Question 33

Kevin is 12 years old with a diagnosis of DMD and is not walking as much as he used to. He is falling a lot, and it is difficult to get back up on his feet without significant help from someone. His mom reports he is complaining more about leg cramps and back pain. Kevin only walks at home in the bathroom, bedroom, living room, and kitchen (all short distances). Last night while Kevin was bathing, he fell from his shower bench to the tile floor. He screamed with pain and refused to be moved while grabbing his back and pointing to his leg just above the knee. What are the signs and symptoms this family should be monitoring that would indicate a serious life-threatening condition requiring immediate care?

1) Swelling and sweating
2) Difficulty managing swallowing and flushed cheeks
3) Bleeding from a cut on his knee and rapid heart rate
4) Rapid onset shortness of breath and changes in alertness

Answer 33

4

These signs and symptoms are indicative of fat embolism syndrome (FES) and require immediate attention. He should be taken to the emergency room immediately, and the staff there should be informed that this is a possibility due to his condition. Families are encouraged to carry a card with them that explains FES, which, although extremely rare, should be ruled out since it can be fatal (card available through Parent Project MD)

Question 34

Lucas is 17 years old and nonambulatory. He stopped walking five years ago. His mother notices he is often tired and grouchy in the morning after waking. She also notices he is not able to clear his throat as well now. When he was seen in the muscular dystrophy clinic five months ago, his FVC revealed a value of less than 50%. He is not using any ventilatory assistive devices. Mom is concerned about this change in behavior and asks the PT for advice. Lucas is not scheduled to go back to the MD clinic for another six months. As his therapist, which of the following would be the best recommendation?

1) Recommend mom call the nurse at his primary care physician (PCP) office to discuss his mood changes
2) Begin to work on diaphragm strengthening during your therapy sessions, and teach mom how to do it at home
3) Refer him back to pulmonology for repeat PFT and a sleep study
4) Instruct family in cupping over rib cage to keep lungs clear.

Answer 34

3)

Because his FVC is less than 50% and he wakes up tired, is grouchy, and is having a difficult time clearing secretions, it is very possible that he is having nocturnal hypoventilation and may require ***pressure device and possibly a cough assist machine to clear secretions.

***test noted biPAP. Other texts noted CPAP when FVC less than 30%

Question 35

Peter is 3 years old and has a diagnosis of DMD. He is seen in a neuromuscular clinic and referred to PT for instruction in a home program. The PT knows the importance of establishing an appropriate home program of stretching and begins the discussion of night bracing with his family, even at this early age. At this time Peter has full ROM, but you want to encourage and build confidence in the parents to get into a routine of stretching. You have a student PT with you today, and during the instruction in the home exercise program, she asks you what type of stretching is best in this population. What is the best stretching for this young boy?

1) Passive
2) Deep tissue stretching
3) Active or active assist stretching
4) Use of overpressure at the end range

Answer 35

3)

Research has shown that engaging the muscle tissues during stretching activities allows for the muscle to be stretched in a more functional manner. This type of stretching engages patients, teaches them more about their bodies, and is an effective way to stretch. Passive stretching, although a good approach, does not engage children as much and is not the most effective way to gain and maintain ROM, according to research. Deep tissue stretching can cause microtears in the muscle, causing further damage. This is contraindicated. Overpressure at the end of the range can cause microtears in the cell membrane and further damage the muscle.
***Excessive passive stretch can tear muscle due to decreased muscle elasticity

Question 36

Randy is 6 years old with a diagnosis of DMD and loves to play outdoors. The family has been cautioned in the past about active exercise and has limited his outside play at home. In addition, the parents have requested his first grade teachers to limit walking long distances at school although he is completely able to do all activities within the school setting. They have even questioned his participation in any type of PE at school and would prefer he stay in the classroom during these periods. The family’s reasoning behind the request is to protect his muscles in case a treatment or cure is developed that would work for him. As his school PT, which of the following is the best advice for this family without going against their philosophies?

1) Exercise builds muscle and should be done every day
2) Exercise can help their son get into clinical trials since they are often looking for active boys
3) They should allow their son to play sports once a week to improve his circulation, endurance, and strength for clinical trials
4) Lack of exercise leads to disuse atrophy. Moderation of activity is a good compromise.

Answer 36

4) ** with self-modulation and built in rest period

In this population, exercise does not build muscle and can cause damage to the muscle without some modulation of the activities. Most studies do not have exercise as an inclusion criterion. There are no established exercise regimes in this population at this time, although it is thought that some forms of exercise (e.g., pool therapy, biking without resistance) are good for boys with DMD. Playing sports can cause damage to the muscle, especially contact sports that require a lot of running. Fatigue is a real factor in this disease, and boys should not overexert themselves or exercise to the point of exhaustion.

Question 37

Thomas is 18 years old and nonambulatory. He is on BiPAP during the day and night, has limited use of his arms, and is unable to feed himself or perform any activities of daily living, with the exception of still being able to access the internet through the use of Alexa (voice-controlled system). He requires care around the clock. Thomas’s family is concerned he may be depressed. They ask the PT if there are any assessment tools available to assess his mental state and health-related quality of life at home. Which of the following would be the best assessment tool for this situation?

1) Pediatric Quality of Life Inventory (Peds QL)
Reason: This assessment tool measures quality of life in the areas of physical, emotional, social, school functioning, and global health (ages 2–18 years).
2) Pediatric Evaluation of Disability Inventory (PEDI)
Reason: The primary purpose of the PEDI is to measure functional and activity abilities in young children (6 months to 7.5 years) at the activity level of the ICF.
3) Children’s Assessment of Participation and Enjoyment (CAPE)
Reason: The CAPE measures preferences (not quality of life) for involvement in activity at the participation level of the ICF (ages 6-21 years).
4) Participation and Environment Measure Children for and Youth (PEM-CY)
Reason: The PEM-CY measures participation in the home, school, and community settings, and the environment that supports or hinders participation in these settings (Participation level of ICF). This assessment does not measure quality of life.

Answer 37

1) Ped QL

1) Pediatric Quality of Life Inventory (Peds QL)
Reason: This assessment tool measures quality of life in the areas of physical, emotional, social, school functioning, and global health (ages 2–18 years).
2) Pediatric Evaluation of Disability Inventory (PEDI)
Reason: The primary purpose of the PEDI is to measure functional and activity abilities in young children (6 months to 7.5 years) at the activity level of the ICF.
3) Children’s Assessment of Participation and Enjoyment (CAPE)
Reason: The CAPE measures preferences (not quality of life) for involvement in activity at the participation level of the ICF (ages 6-21 years).
4) Participation and Environment Measure Children for and Youth (PEM-CY)
Reason: The PEM-CY measures participation in the home, school, and community settings, and the environment that supports or hinders participation in these settings (Participation level of ICF). This assessment does not measure quality of life

Question 38

You are working with a 5 year old child who recently was diagnosed with DMD. Upon inital eval you noted Gastroc AROM of 10 deg L and 12 deg R. The mother reports that her husband, who is a PT, is confused why you are recommended the child perform daily stretches and use night splints now as his ROM is still within normal limits and the father noticed no ROM limits before. What is the best explanation for this recommendation at this time.

Answer 38

Daily stretches and use of splints help to slow progression of contracture. No limits were noted before as most limitations are typically not noted before 5 yoa.

Question 39

Based on a study by Lewis, who wanted to limit negative effects from long term steroid use, which drug was shown to improve bone mineral density in the lower extremities (even in wheelchair users)

Answer 39

Creatine