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Flashcards in Myopathies - Newman Deck (16)

Discuss the importance of monitoring development in children

Diseases don't always show up right away, so continuous monitoring over the years is important


Name the four general domains of pediatric development.

- Gross motor
- Fine motor
- Language
- Cognitive/Behavioral/Emotiona


Explain the importance of early intervention in children with developmental

The sooner they get help, the better their chances are in the long run.


Understand that not hitting developmental milestones can be serious, but
hitting milestones and then regressing is even more ominous.

***If a child fails a developmental screen, what do you do?



***List the gross motor developmental milestones discussed during this
- 6 mo?
- 9 mo?
- 1 year?
- 2 years?
- 3 years?
- 4 years?
- 6 years?

6 mo = sits up briefly
9 mo = sits up well, pulls up, words
1 year = separation anxiety, 3 blocks
2 years = 2 words together, 2/4 understood by outsider, 6 blocks, copies a line
3 years = 3 words together, 3/4 understood, 9 blocks, tricycle
4 years = sentences, 4/4 understood, past tense, copies a cross
6 years = ties shoes, skips, draw person


Describe the clinical presentation, **inheritance pattern, and genetic
abnormality seen in DMD.
Common cause of death?

Almost all will develop ___ and need surgery

Inheritence = X-recessive
Genetic = dystrophin mutation (frameshift --> absence of it)
Clinical = delayed walking, difficulty running, waddling gait, lumbar hyperlordosis, forward protrusion of abdomen, Gowers sign, enlarged calf/thigh muscles, toe walking (tendon contracture), limited hip flexion (IT contracture).

Cause of death = respiratory failure



Describe the clinical presentation, inheritance pattern, and genetic
abnormality seen in BMD.

Inheritence = X-recessive
Genetic = dystrophin mutation (point mutation --> dysfunctional)
Clinical = late-onset proximal muscle weakness, loss of walking much later, neck muscle strength preserved, later death (30s-50s)


Describe the presentation of congenital muscular dystrophies.

Present at birth or soon after w/ hypotonia, severe muscle weakness, contractures, and other malformations (eyes, brain, heart, spine).


Explain the importance of GGTP in differentiating between muscle disease
and liver disease

GGTP level determines if liver is involved or not for ANY muscle disease


Explain the role dystrophin plays in muscular dystrophies.

Connects cytoskeleton of muscle fiber to surrounding extracellular matrix, anchoring actin to other support proteins


Know that congenital myasthenia syndrome does NOT involve ___



Describe the clinical picture seen with Spinal Muscular Atrophy.

Progressive proximal muscle weakness and absence of DTRs DUE TO degeneration of brainstem nuclei and motor neurons. Progression to respiratory failure.


List the major clinical findings of juvenile dermatomyositis.

Child w/ proximal muscle weakness, heliotrope rash over eyelids, raised papules over extensor joint surfaces, thrombi or hemorrhage


Describe statin induced myopathy

Statins can cause necrotizing and inflammatory myopathy as a side effect. CK is greatly elevated with muscle weakness, pain, and tenderness.


Understand the importance of serum creatine kinase measurement in
genetic or acquired muscle diseases.

Got it


Know the course and prognosis of mitochondrial myopathies.

Young or older kids start developing problems w/ the heart, skeletal muscles and/or brain.