Respiratory Muscle Diseases

Question 1

Scoliosis is most common in boys with _____ scoliosis.

Answer 1

Infantile: 0-3 years

Question 2

You begin to see pulmonary function abnormalities (what type of abnormality?) when scoliosis curve exceeds _____.

Answer 2

1. Restrictive Lung Dz

2. 50 degrees

Question 3

How to assess severity of pectus excavatum?

Answer 3

CT

Is the heart shifted to the left?

Question 4

Short ribs, small rib cage, renal disease

Answer 4

Asphyxiating Thoracic Distrophy

Question 5

What is the #1 and #2 most common letahal autosomal recessive disorders?

Answer 5

1. CF

2. SMA

Question 6

SMA is a disorder of the gene of what chromosome

Answer 6

5q13

Gene: SMN1

Question 7

Most common type of SMA?

Answer 7

Type 2
Lose milestones by age 2
Often live until adulthood (resp failure)

Question 8

Patient is unable to walk. A CPK is normal.

Answer 8

SMA type 3.
Legs affected much more than arms.
Cannot walk unaided
Normal lifespan.

Question 9

At what age do Duchenne’s patients lose ability to walk?

Answer 9

12

Question 10

Duchenne’s: how to diagnose?

Answer 10

Muscle bx
Atrophic muscle
Immunohistochem: deficient dystrophin

Question 11

After child becomes wheel-chair bound, this complication develops rapidly

Answer 11

Scoliosis: early intervention

Question 12

How to diagnose myathenia gravis?

Answer 12

1. Acetylcholine receptor ABs

2. Muscle-specific tyrosine kinase AB (MuSK-Ab)

Question 13

Tx for myasthenia gravis

Answer 13

pyridostigmine

Question 14

_____ induces remission of myasthenia gravis in 50%.

Answer 14

Thymectomy: remove source of antibodies

Question 15

In a severe myasthenia gravis episode, you can treat with __________.

Answer 15

Plasmapharesis: clear the antibodies