Neuromuscular

Question 1

[Gen/Neuromuscular/SMA]

Characteristics of Type 0 spinal muscular atrophy? (5)
- Onset
- Growth
- Amniotic fluid
- Congenital malformations (2)

Answer 1

1. Onset in utero
2. Intra­ uterine growth restriction (IUGR)
3. Polyhydramnios
4. Arthrogryposis (variety of conditions involving multiple joint contracture)
5. Pulmonary hypoplasia

Question 2

[Gen/Neuromuscular/SMA]

Types of spinal muscle atrophy? (4)

Answer 2

Type 0 (prenatal SMA)
Type 1 (Werdnig-Hoffmann disease, or severe infantile SMA)
Type 2 (intermediate or chronic infantile SMA)
Type 3 (Kugelberg-Welander disease, or juvenile SMA)

Question 3

[Gen/Neuromuscular/SMA]

Characteristics of Type 1 spinal muscular atrophy? (4)
- Onset
- Presentation
- Characteristic neurologic sign
- Prognosis

Answer 3

1. Presents at < 6 months of age
2. Hypotonia and weakness, difficulty feeding
3. Tongue fasciculations
4. Most patients die by 2 years of age due to respiratory failure

Question 4

[Gen/Neuromuscular/SMA]

Characteristics of type 2 spinal muscular atrophy? (3)

Answer 4

1. Healthy at birth and achieve initial normal milestones
2. Motor regression by 2 years of age: hypotonia, weakness ofthe intercostal muscles, muscle atrophy, and fasciculations
3. The majority of affected children die by 12 years of age

Question 5

[Gen/Neuromuscular/SMA]

Characteristics of Type 3 (Kugelberg-Welander disease, or juvenile SMA)? (3)

Answer 5

1. Presents between 2 and 17 years of age
2. Unable to walk, motor symptoms
3. These patients have a normal lifespan

Question 6

[Gen/Neuromuscular/SMA]

Treatment for spinal muscular atrophy? (2)

Answer 6

1. Intrathecal nusinersen (an antisense oligonucleotide)
2. Onasemnogene abeparvovec (AAV9 gene therapy)

Question 7

[Gen/Neuromuscular/DMD]

Symptoms of duchenne muscular dystrophy (4)

Answer 7

1. Progressive muscle weakness, starting from proximal muscles
2. Calf hypertrophy
3. Gowers sign at 2 years of age
4. Wheelchair dependency by 12

Question 8

[Gen/Neuromuscular/DMD]

Treatment for Duchenne muscular dystrophy?

Answer 8

Eteplirsen, an antisense oligonucleotide