35.2 Child with weakness

Question 1

two kinds of floppy infants, how to tell difference?

Answer 1

upper motor: impaired alertness, brisk reflexes

lower motor: alert, not moving, no reflexes, no antigravity movements

Question 2

spinal muscular atrophy, which forms are worse?

Answer 2

the ones that present earlier in life

Question 3

hypotonic infant, investigations?

Answer 3

• CK
• imaging
• ABs for AcHR/MuSK
• nerve conduction studies
• genetic testing

Question 4

muscular dystrophy examination you find?

Answer 4

• hypotonia/hyporeflexia
• pattern of weakness
• gower’s manoeuvre
• calf hypertrophy
• pes cavus

Question 5

what is the pattern of involvement for muscular dystrophy?

Answer 5

proximal

girdle

Question 6

what makes a dystrophy?

Answer 6

• ongoing damage and repair of muscle fibres

- slow worsening - progressive

Question 7

most common inherited muscle disease?

Answer 7

duchenne muscular dystrophy

Question 8

nerve conduction study, what is the threshold speed for demyelinating v axonal?

Answer 8

<38m/s demyelinating

>38 axonal

Question 9

charcot marie tooth disease classic signs?

Answer 9

pes cavus
foot drop
peripheral neuropathy

Question 10

most common muscular dystrophy?

Answer 10

duchenne’s

Becker

Question 11

2nd most common muscular dystrophy? features?

Answer 11

myotonic dystrophy

• facial weakness
• intellectual disability

Question 12

face-scapulo-humeral dystrophy phenotype?

Answer 12

facial weakness

• scapular winging
• humeral weakness

Question 13

congenital myopathies: CK? progressive?

Answer 13

CK not raise

not really progressive