Conditions

Question 1

What is Alber-s Schonberg diesease

Answer 1

Type II of AD osteopetrosis

Question 2

SMN1 gene on chromosome 5?

Answer 2

SMA

Question 3

Genetic defect with loss of anterior horn cells

Answer 3

SMA

Question 4

Acute Werdnig-Hoffman

Answer 4

SMA type 1

Global hypotonia, difficulty swallowing, absent deep tendon reflexes, and tongue atrophy, with disease onset within the first 6 months of birth

All share hypotonia, hyporeflexia, proximal greater than distal muscle weakness, and fasciculations

Question 5

Chronic Wernig-Hoffman

Answer 5

SMA type 2

Delayed motor milestones, scoliosis, and joint contracture, with disease onset around 6-18 months of age

Question 6

Kugelberg-Welander

Answer 6

SMA type 3

Scoliosis, hand tremors, increased lumbar lordosis, and bilateral Trendelenburg lurch, with disease onset later in life (>18 months of age)