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MSK 2 Post Midterm > Pediatric Myopathies > Flashcards

Pediatric Myopathies Flashcards

1
Q

Four general domains of pediatric development.

A
  • Gross Motor
  • Fine Motor
  • Language
  • Cognitive/Social - Emotional and Behavioral
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2
Q

DMD:

  • clinical presentation
  • **inheritance, pattern
  • genetic abnormality
A

Cannot move against gravity.

  • X-linked recessive, frameshift mutation
  • absence of dystrophin
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3
Q

What do you do if a child fails a developmental screen?

A

refer more more testing

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4
Q

BMD:

  • clinical presentation
  • inheritance, pattern
  • genetic abnormality
A

Can initially move against gravity, but progress to not being able to. ambulatory for another 4 years

  • X-linked recessive, frameshift mutation
  • dysfunctional amount of dystrophin
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5
Q

Gowers sign

A

To stand from lying position: A child “walks” their hand up their legs to knees and pushes off to toes to get to a standing position.

seen in DMD and DMD

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6
Q

Presentation of congenital muscular dystrophies

A
  • Present at birth or early infancy - Hypotonia. Severe muscle weakness (proximal>distal), JOINT CONTRACTURES
  • May present with: Malformations of the eyes. Malformations of the brain. Cardiomyopathy. Rigid spine
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7
Q

How does GGTP help differentiate between muscle disease and liver disease?

A

If liver enzymes are elevated (ALT, AST, Aldolase, lactate dehydrogenase) GGTP level can help determine if the liver is involved.

If GGTP is low, then it’s muscle related.

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8
Q

Does congenital myasthenia syndrome involve antibodies?

A

There are NO ANTIBODIES to acetylcholine receptor and anti‐muscle specific kinase as seen in myasthenia gravis

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9
Q

Spinal Muscular Atrophy clinical picture

A

AR
• Progressive muscle weakness - Proximal weaker than distal. Absence of deep tendon reflexes. Due to degenerations of:
• Anterior motor neurons
• Brain stem nuclei

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10
Q

Describe statin induced myopathy

A

Statins can cause: Necrotizing and inflammatory myopathy
• Muscle weakness
• Pain
• Tenderness

CK increases!

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11
Q

What is the importance of serum CK measurement in genetic or acquired muscle diseases.

A

• Elevation of CK to more than 10 times normal in Statin Induced Myopathy

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12
Q

Mitochondrial myopathies:

  • course
  • prognosis, when does it present?
  • Genetics
A

• Organs dependent on aerobic metabolism are most affected: Heart, Skeletal muscles, Brain
-Genetics - maternal inheritance if mitochondrial DNA, nuclear gene mutaitons=AD or AR

can present at ANY age - supportive care only

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13
Q

What is M‐CHAT‐R

A

Modified Checklist for Autism in Toddlers‐Revised
(administer at 18 mos and 24mos)

specifically looks at social interaction and language skills

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14
Q

What development age will:
• Babbles (consonants)
• Sits momentarily

A

6 months

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15
Q 
What development age will: 
• Momma/dadda (nonspecific)
• Pulls up
• Cruises
• Sits well without support
A

9months

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16
Q

What development age will:
• Separation anxiety
• Momma/dadda (specific)
• Stacks 3 cubes

A

1 year

17
Q 
What development age will: 
• 2 words together
• 2/4 of language understood by people who don’t live in the home
• Starting interest in potty training
• 6 blocks
• Copy a line
A

2 years

18
Q 
What development age will: 
• Tricycle
• 3 numbers, 3 colors, 3 words together
• Playing in groups (3 is a group)
• 9 blocks
• ¾ of speech understood by strangers
A

3 years

19
Q

What development age will:
• 4 body parts
• 4/4 (100%) of speech understandable by strangers
• Past tense (b4)
• Copies a cross (1 line at 2 yrs, 2 lines at 4 yrs)

A

4 years

20
Q

What development age will:
• Ties shoes
• Skips
• Draws a person with 6 parts

A

6 years

21
Q

Males on mom’s side have something - means what inheritance

A

X-linked recessive

50%

22
Q
  • Rarely have anti ‐gravity neck flexor strength
  • Delayed walking, difficulty running
  • Broad‐based, waddling, lordotic gait.
  • Gowers sign (due to proximal muscle weakness)
A

DMD

23
Q
  • Ambulation in DMD no longer possible after __ to __ years
  • compromised respiratory status by __ or __ decades
  • Cardiomyopathy develops in DMD around __ years
A

12-13

2nd-3rd decade

15 years

24
Q
  • Proximal muscle weakness after 5 years of age
  • Maintenance of independent walking until after age 16 years
  • Preserve anti‐gravity strength of *neck flexor muscles
  • Age of death varies between fourth and sixth decades of life
A

BMD

live 30-50 years old

25
Q

Genetics of congenital muscular dystrophies.

A

AR, mutations in multiple genes

26
Q 
What is this and what is the tx?
AR, alpha-glucosidase gene mutation.  
• Usually presents in early infancy
• Generalized weakness and hypotonia
• ***Hypertrophic cardiomayopathy***
• Respiratory failure
• Feeding difficulty
• Hearing loss
A

Glycogen Storage Disorder type 2 (pompe disease)

• Enzymatic treatments are available (Myozyme) that may help reduce cardiac mass and improve ejection fraction.

27
Q 
What is this:
• Muscle stiffness due to myotonia
• Relieved by brief exercise
• Muscles are generally hypertrophic
• Proximal and distal muscle weakness are possible
A

Myotonia Congenita (Mutation in Cl cnahhel - CLCN 1 geme mutation)

28
Q

two types of Periodic Paralysis. when do they occur?

(Periodic Paralysis: Repeated episodes of flaccid paralysis of the
4 extremities)

A
  • Hypocalcemic - occurs after exercise and carbohydrate‐rich foods
  • Hyperkalemic - occurs while eating potassium‐rich food or during rest after exercise
29
Q

Labs in muscle disease

A
  • serum CK
  • myoglobin (shows up with blood in urine - but no blood in microscopic)
  • AST/ALT elevation
30
Q

what four liver enzymes are also in muscle, so can be elevated?

A

AST, ALT, aldolase, lactate dehydrogenase

MSK 2 Post Midterm (11 decks)

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