Clinical Approach to Myopathies (Newman)

Question 1

When caring for a child, is a developmental screen, or a screening of any type, diagnostic?

A failed or concerning result of a screening test is an indication for?

Answer 1

1) No

2) More thorough evaluation

Question 2

What movements are the most important domain when talking about myopathies?

Answer 2

Gross motor

Question 3

Gross motor which is one of the domains of pediatric development involves?

Examples?

Answer 3

1) Movements involving the large muscles

2) Supporting head, rolling over, sitting up, walking

Question 4

Fine motor which is one of the domains of pediatric development involves?

Answer 4

Movements using the hands and smaller muscles

Question 5

What makes up the language domain of pediatric development?

Answer 5

1) Receptive (understanding what is being said to them)
2) Expressive (talking)
3) Both verbal and nonverbal communication

Question 6

What makes up the Cognitive/Social-Emotional and Behavioral domain of pediatric development?

Answer 6

1) Attachment to others
2) Self-regulation
3) Interaction with others

Question 7

What is the importance of early intervention in children with developmental delays?

Answer 7

The earlier a developmental deficit is identified and the earlier an intervention is made, the better the outcome

Question 8

While not meeting developmental milestones is concerning, what is viewed as more concerning?

Answer 8

Losing developmental skills that had already been achieved

Question 9

1) When can a child hold their chin up when in the prone position?
2) Roll over from front to back?
3) Sit briefly without support?
4) Pull to stand?
5) Stand without support?
6) Run with coordination?
7) Pedal tricycle?
8) Climb stairs with alternating feet?
9) Balance on one foot?

Answer 9

1) 2 months
2) 4 months
3) 6 months
4) 9 months
5) 12 months
6) 2 years
7) 3 years
8) 3 years
9) 4 years

Question 10

What does the DDST-II (Denver Developmental Screening Test) assess?

Answer 10

The four major domains of development

Question 11

When is the M-CHAT-R (Modified Checklist for Autism in Toddlers-Revised) administered?

Answer 11

18- and 24-months-of-age

Question 12

The M-CHAT-R focuses on the areas where the DDST-II is known to be weak which are?

Answer 12

1) Personal-social domain

2) Language domain

Question 13

Children with autism or another diagnosis under the umbrella of Pervasive Developmental Delay (PDD) struggle with?

Answer 13

Communication and interaction with their environment

Question 14

What is weakness?

What is hypotonia?

Answer 14

1) Decreased ability to voluntarily and actively move muscles against resistance
2) Decreased muscle tone

Question 15

Weakness and hypotonia often occur together, but hypotonia can exist in the absence of weakness and if this occurs what is most likely involved?

Answer 15

Neuro issue

Question 16

What is a myopathy?

Answer 16

A muscular disease unrelated to any disorder of innervation or neuromuscular junction

Question 17

Most myopathies present with?

Answer 17

Weakness in the proximal muscles

Question 18

In regard to myopathies, what starts normal but may decrease as weakness progresses?

Answer 18

DTR’s

Question 19

What is the most common severe childhood form of muscular dystrophy?

Answer 19

Duchenne Muscular Dystrophy (DMD)

Question 20

What is the inheritance pattern of DMD?

What does the inheritance pattern mean?

Answer 20

1) X linked recessive

2) Sons have a 50% chance of getting it while daughters have a 50% change of being carriers

Question 21

What is the mutation seen with DMD?

What does this cause?

Answer 21

1) Frameshift mutation of dystrophin

2) Absent of muscle dystrophin

Question 22

What may girls that are carriers of DMD develop?

Answer 22

Cardiomyopathy

Question 23

How do DMD patients present?

Answer 23

1) Rarely have anti-gravity neck flexor strength
2) Delayed walking, difficulty running
3) Broad-based, waddling, lordotic gait
4) Gowers maneuver (due to proximal muscle weakness)

Question 24

When is DMD usually first noted?

Answer 24

Around 1.5-2 years old because developmental milestones in the gross motor domain start to be missed

Question 25

What levels are usually extremely elevated with DMD?

What are usually used in treatment?

Answer 25

1) Creatine Kinase

2) Steroids

Question 26

What muscular dystrophy is similar to DMD but is less severe on clinical presentation?

Answer 26

Becker muscular dystrophy

Question 27

How does BMD differ from DMD in terms of mutation?

Answer 27

It is an in-frame mutation in the dystrophin gene resulting in production of abnormal dystrophin instead of it being absent

Question 28

When does the severe muscle weakness present with congenital muscular dystrophies?

What is the inheritance pattern of CMD?

The genetic defects involve structural proteins of?

Which sex does it affect more?

Answer 28

1) At birth or shortly after
2) Autosomal recessive
3) The extracellular matrix
4) Both

Question 29

What is the inheritance pattern of Glycogen Storage Disorder type 2 (Pompe disease)?

It is due to what gene mutation?

It leads to a build-up of glycogen where in the cell?

Answer 29

1) AR
2) Alpha-glucosidase
3) Lysosome

Question 30

What is the clinical presentation of Pompe disease?

Answer 30

1) Generalized weakness and hypotonia early in life
2) Cardiomyopathy
3) Respiratory issues

Question 31

Myotonia Congenita is due to a mutation of?

Answer 31

Chloride channel CLCN 1

Question 32

What is the most common idiopathic inflammatory myopathy in children?

Answer 32

Juvenile dermatomyositis

Question 33

What is the clinical presentation of Juvenile dermatomyositis?

Answer 33

1) Generalized muscle weakness
2) Heliotrope rash with periorbital edema
3) Raised erythematous papules over the extensor joint surfaces (Gottron’s papules)
4) Thrombi or hemorrhage in peri-ungual capillary beds

Question 34

Elevated activity of what is usually an indicator of muscle damage?

Answer 34

Serum creatine kinase

Question 35

What levels can help determine if the liver is involved?

Answer 35

GGT (gamma-glutamyl transferase)

Question 36

If GGT is elevated what is involved?

If it is normal?

Answer 36

1) Liver

2) Muscle