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Fall 2020 Exam 2 > DMD > Flashcards

DMD Flashcards

1
Q

DMD primarily affects which muscles?

A

quadracepts and gluteal

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2
Q

Which type of myofibers are affected?

A

Fast twich Tyoe 2B

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3
Q

Characteristics of DMD

A

muscle wasting

weakness

myofiber size variation with muscle necrosis

fat accumulation

paradoxical hypertrophy of calf muscles

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4
Q

DMD is a gene mutation on?

A

Xp21

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5
Q

What protein is dysrupted?

A

Dystrophin which is primarily located in skeletal muscle

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6
Q

loss of ambulation and caridiopulmonary compromise occurs by age

A

20

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7
Q

function of dystrophin

A

stabilize plasma membrane maintain stregnth of muscle fibers

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8
Q

Considered a ___ mypoathy

A

proximal

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9
Q

Genetic RF

A

X linked,

Males > females

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

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10
Q

Chance in future pregnancies

A

50%

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11
Q

Average life expectancy

A

mid 30’s

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12
Q

Ultimate cause of death

A

progressive to cardiomyopathy and pulmonary failure

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13
Q

average age at loss of ambulation

A

9-10 years old

steriods prolong this by 2-3 years

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14
Q

Endocrine

A

Delayed puberty

alterations in growth

diabetes, adrenal insufficiency

educate parents on adrenal crisis

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15
Q

obesity

A

disposed to OSA

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16
Q

vision problems

A

steroids can cause cataracts

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17
Q

dental problems

A

due to bone density

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18
Q

orthopedic concerns

A

osteoporosis

scoliosis

fractures

decreased ROM, contractures and pain

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19
Q

GI disturbances

A

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

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20
Q

Cardiovascular

A

progressive cardiomyopathies-> HF

hypercholesterolemia & hypertension

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21
Q

Respiratory

A

recurrent pneumonias

progressive -> respiratory failure

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22
Q

psychosocial concerns/co-conditions

A

ADHD

learning disabilities

language disorders

autism

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23
Q

history clues (3)

A

Family member with DMD

incidental lab findings

complications with anesthesia

24
Q

abnormal labs

A

elevated CK, transaminases or myoglobinuria

25
Q

Common anesthesia complications

A

rhabdomyolysis

malignant hyperthermia

26
Q

Common presenting s/s (8)

A

tow walking

gowers sign

muscle atrophy

fatigue

difficulty climbing stairs

global developmental delay

speech delay

FTT

27
Q

Global developmental delay

A

may be the primary presentation

28
Q

Red flags (3)

A

delayed motor development-

(esp age of ambulation or gait abnormalities)

FTT

Not walking by 18 months

29
Q

Average age at presentation

A

2-3 years

30
Q

Average age at diagnosis

A

3-5 years

31
Q

When do we test for DMD?

A

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

32
Q

Gold standard for diagnosis

A

serum CK based on H&P suspicions

33
Q

If CK is elevated then..

A

genetic testing for gene mutation is recommended

34
Q

If genetic testing is inconclusive then…

A

muscle boipsy is warranted

35
Q

What is confirmatory for DMD after muscle biopsy?

A

absence of dystrophin in muscle biopsy

36
Q

Treatment

Prednisode dose

A

0.75mg/kg/day

37
Q

Treatment

Deflazacort

A

0.9mg/kg/day

38
Q

When should steriod treatment begin?

A

early ambularoty phase before major physical decline begins

39
Q

When is follow up after starting steriods?

A

At one month

then Q 2-3 months until on stabilized dose with minimal side effects

Dose is titrated down to decrease s/e

40
Q

Steriods should never be

A

stopped abruptly

educate parents

41
Q

Patient should carry

A

card provided by neuromuscular specialist

42
Q

Initiation of ARB or ACE inhibitor by age

A

10 t preserve cardiac function

43
Q

female carriers

A

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

44
Q

FVC testing from pulm at what age?

A

5-6 years old

45
Q

when is weight gain most common?

A

initiation or steriods

loss of ambulation

46
Q

weight loss can occur from

A

progressive dysphagia

47
Q

diet

A

rich in nutrients, low calories/cholesterol

adequate vitamin D and calcium

48
Q

Immunizations recommended

A

All plus flu, prevnar 13 and pneumovax 23

49
Q

what is considered immunocompromised for vaccination purposes?

A

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

50
Q

Dental risk

A

at increased risk for osteoporotic fractures and necrosis of the jaw

consider flouride supplementation if not city water

51
Q

nonpharmacologic management

A

weight bearing exercise, diet, massage therapy

52
Q

menatl heath screening tool for children

A

stregnths and difficulties questioner for children

53
Q

Mental health screening tool for parents

A

parents of 5-17 year olds

personal adjustment and role skill scale evaluates coping mechanisms

54
Q

How frequent are well visits?

A

Every 6 months

55
Q

when should transitioning to an adult provider begin?

A

12 years old

56
Q

resources for families

A

MDA

CDC guide for families

Fall 2020 Exam 2 (7 decks)

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