DMD

Question 1

DMD primarily affects which muscles?

Answer 1

quadracepts and gluteal

Question 2

Which type of myofibers are affected?

Answer 2

Fast twich Tyoe 2B

Question 3

Characteristics of DMD

Answer 3

muscle wasting

weakness

myofiber size variation with muscle necrosis

fat accumulation

paradoxical hypertrophy of calf muscles

Question 4

DMD is a gene mutation on?

Answer 4

Xp21

Question 5

What protein is dysrupted?

Answer 5

Dystrophin which is primarily located in skeletal muscle

Question 6

loss of ambulation and caridiopulmonary compromise occurs by age

Answer 6

20

Question 7

function of dystrophin

Answer 7

stabilize plasma membrane maintain stregnth of muscle fibers

Question 8

Considered a ___ mypoathy

Answer 8

proximal

Question 9

Genetic RF

Answer 9

X linked,

Males > females

women must have a defective gene on both X alleles to have a severe presentation

Question 10

Chance in future pregnancies

Answer 10

50%

Question 11

Average life expectancy

Answer 11

mid 30’s

Question 12

Ultimate cause of death

Answer 12

progressive to cardiomyopathy and pulmonary failure

Question 13

average age at loss of ambulation

Answer 13

9-10 years old

steriods prolong this by 2-3 years

Question 14

Endocrine

Answer 14

Delayed puberty

alterations in growth

diabetes, adrenal insufficiency

educate parents on adrenal crisis

Question 15

obesity

Answer 15

disposed to OSA

Question 16

vision problems

Answer 16

steroids can cause cataracts

Question 17

dental problems

Answer 17

due to bone density

Question 18

orthopedic concerns

Answer 18

osteoporosis

scoliosis

fractures

decreased ROM, contractures and pain

Question 19

GI disturbances

Answer 19

dysphagia, constipation, GERD, FTT, gastroporesis, vitamin deficiencies

Question 20

Cardiovascular

Answer 20

progressive cardiomyopathies-> HF

hypercholesterolemia & hypertension

Question 21

Respiratory

Answer 21

recurrent pneumonias

progressive -> respiratory failure

Question 22

psychosocial concerns/co-conditions

Answer 22

ADHD

learning disabilities

language disorders

autism

Question 23

history clues (3)

Answer 23

Family member with DMD

incidental lab findings

complications with anesthesia

Question 24

abnormal labs

Answer 24

elevated CK, transaminases or myoglobinuria

Question 25

Common anesthesia complications

Answer 25

rhabdomyolysis malignant hyperthermia

Question 26

Common presenting s/s (8)

Answer 26

tow walking gowers sign muscle atrophy fatigue difficulty climbing stairs global developmental delay speech delay FTT

Question 27

Global developmental delay

Answer 27

may be the primary presentation

Question 28

Red flags (3)

Answer 28

delayed motor development- (esp age of ambulation or gait abnormalities) FTT Not walking by 18 months

Question 29

Average age at presentation

Answer 29

2-3 years

Question 30

Average age at diagnosis

Answer 30

3-5 years

Question 31

When do we test for DMD?

Answer 31

elevated CK, fam hx along with any suspicion of muscle abnormailty, not walking by 18m, persistant toe walking, presence of gowers sign

Question 32

Gold standard for diagnosis

Answer 32

serum CK based on H&P suspicions

Question 33

If CK is elevated then..

Answer 33

genetic testing for gene mutation is recommended

Question 34

If genetic testing is inconclusive then...

Answer 34

muscle boipsy is warranted

Question 35

What is confirmatory for DMD after muscle biopsy?

Answer 35

absence of dystrophin in muscle biopsy

Question 36

Treatment Prednisode dose

Answer 36

0.75mg/kg/day

Question 37

Treatment Deflazacort

Answer 37

0.9mg/kg/day

Question 38

When should steriod treatment begin?

Answer 38

early ambularoty phase before major physical decline begins

Question 39

When is follow up after starting steriods?

Answer 39

At one month then Q 2-3 months until on stabilized dose with minimal side effects Dose is titrated down to decrease s/e

Question 40

Steriods should never be

Answer 40

stopped abruptly educate parents

Question 41

Patient should carry

Answer 41

card provided by neuromuscular specialist

Question 42

Initiation of ARB or ACE inhibitor by age

Answer 42

10 t preserve cardiac function

Question 43

female carriers

Answer 43

refer to cardio at diagnosis, can be asymptomatic and have silent cardiomyopathies

Question 44

FVC testing from pulm at what age?

Answer 44

5-6 years old

Question 45

when is weight gain most common?

Answer 45

initiation or steriods loss of ambulation

Question 46

weight loss can occur from

Answer 46

progressive dysphagia

Question 47

diet

Answer 47

rich in nutrients, low calories/cholesterol adequate vitamin D and calcium

Question 48

Immunizations recommended

Answer 48

All plus flu, prevnar 13 and pneumovax 23

Question 49

what is considered immunocompromised for vaccination purposes?

Answer 49

taking \>2mg/kg/day should not recieve live vaccines give them prior to starting steriods 2 doses of MMR can be given 4 weeks apart

Question 50

Dental risk

Answer 50

at increased risk for osteoporotic fractures and necrosis of the jaw consider flouride supplementation if not city water

Question 51

nonpharmacologic management

Answer 51

weight bearing exercise, diet, massage therapy

Question 52

menatl heath screening tool for children

Answer 52

stregnths and difficulties questioner for children

Question 53

Mental health screening tool for parents

Answer 53

parents of 5-17 year olds personal adjustment and role skill scale evaluates coping mechanisms

Question 54

How frequent are well visits?

Answer 54

Every 6 months

Question 55

when should transitioning to an adult provider begin?

Answer 55

12 years old

Question 56

resources for families

Answer 56

MDA CDC guide for families