Newman - Myopathy

Question 1

When is the denver developmental screening test performed?

Answer 1

9, 18, 24, 30 months

Question 2

Congenital muscular dystrophy inheritance?

May present w/what?

Answer 2

AR

Malformations of eye/brain
Cardiomyopathy
Joint contracture

Question 3

What can help determine if the liver is involved in muscle disease?

Answer 3

GGT (gamma-glutamyl transferase)

Question 6

How many blocks should a child stack at 1 year?

2 years?

3 years?

Answer 6

3

6

9

Damn girl fine, get low

Question 7

DMD has what inheritance?

50% of sons and daughters will have what?

Results from what mutation?

Answer 7

X-linked recessive

Son have DMD
Daughters will be carriers

Frameshift mutations –> absence of dystrophin

Question 9

Periodic paralysis may be caused by what?

Is what?

Treatment?

Answer 9

Hypo/hyperkalemia

Episodes of flaccid paralysis

Acetazolamide (CA-I)

Question 10

What age does a child babble consonants?

Answer 10

6 months

Question 12

What age can a child speak momma/dadda (nonspecific)?

Answer 12

9 months

Question 13

If GGT is elevated means what?

If normal?

Answer 13

Liver issue

Muscle issue

Question 14

Tx for DMD?

Answer 14

Steroids if over 5 y/o

Supportive

Question 15

Weakness is diminished _____?

_____ is often present with normal strength?

Answer 15

Muscle power or strength

Hypotonia

Question 16

What is the most common idiopathic inflammatory myopathy in children?

Mean age of onset?

CF?

Pathogenesis?

Answer 16

Juvenile dermatomyositis

7

Muscle weakness (prox>dist), helitrope rash, Gottren papules

B cells and CD4 T cells

Question 17

What compensatory postural adjustments occur in DMD?

Answer 17

Broadening of stance
Accentuated lumbar lordosis
Forward thrusting of abdomen

Question 21

Mitochondrial disorders caused by what?

Example of 1

Answer 21

Mitochondrial or nuclear DNA Mutations

MELAS

Question 22

What age can a child speak 2 words together?

Answer 22

2 years

Question 24

BMD has what mutation?

Produces what?

Clinical features?

Answer 24

In-frame mutation

Abnormal dystrophin

Prox muscle weakness after 5
Age of death 30-59

Question 26

Statins can cause what?

Answer 26

Necrotizing and inflammatory myopathy

Muscle weakness
Pain
Tenderness

Question 27

Myotonia congenita mutation?

Clinical features?

Answer 27

CLCN1

Muscle stiffness relieved by brief exercise
Hypertrophic muscles
Prox/dit muscle weakness

Question 30

DMD pts often show what clinical sign?

Answer 30

Gower’s sign (due to prox muscle weakness)

Question 32

Pompe disease inheritance?

Mutation?

Presents w/what?

Answer 32

AR

acid a-glucosidase gene mutation

Generalized weakness and hypotonia
Hypertrophic cardiomyopathy
Resp failure
Feeding problems
Hearing loss

Question 33

What age can a child speak momma/dadda (specific)?

Answer 33

1 year

Question 36

What age can a child speak 3 words together?

Answer 36

3 years

Question 37

What is the most common cause of death bw 2nd and 3rd decades in DMD?

Answer 37

Respiratory failure

Question 38

What age does a child sit well without support?

Answer 38

9 months

Question 39

When is the M-CHAT-R performed?

Used for what?

Answer 39

18 and 24 months

Screen for Autism

Question 41

What age can a child speak in the past tense?

Answer 41

4 years