Spinal Muscular Atrophy (MSA), Congenital Hip Dysplasia

Question 1

What is spinal muscular atrophy?

Answer 1

• PROGRESSIVE infantile spinal muscular atrophy
• floppy infant syndrome
• second most common fatal AUTOSOMAL RECESSIVE disorder after cystic fibrosis
• three types: severe, intermediate, mild

Question 2

What are the symptoms of spinal muscular atrophy?

Answer 2

1. significant developmental delays
2. feeding problems
3. decreased movement
4. respiratory problems

Question 3

What is the prognosis of spinal muscular atrophy?

Answer 3

• Severe: death by age 3
• Intermediate: shortened life span
• Mild: normal life span

Question 4

What age does congenital hip dysplasia affect?

Answer 4

• children by age 3

- 85% of affected infants are females

Question 5

What are the degrees of involvement?

Answer 5

• unstable hip dysplasia
• incomplete dislocation/ subluxation
• complete disoclation

Question 6

What are the clinical manifestations of congenital hip dysplasia?

Answer 6

1. asymmetry in ROM
2. asymmetry in buttocks
3. “duck waddle” in gait pattern

Question 7

How is congenital hip dysplasia diagnosed?

Answer 7

1. clinical examination
2. radiographs after 6 months
3. US in first 6 months

Question 8

How is congenital hip dysplasia treated?

Answer 8

1. harness or double diapers to hold hip in flexion and abduction until capsule tightens and acetabulum molds into a cup shape
2. surgery