Spinal Muscular Atrophy

Question 1

What is spinal muscular atrophy?

Answer 1

Genetic condition that causes progressive loss of motor neurones in the anterior horn of the spinal cord

Question 2

What is the inheritance pattern of spinal muscular atrophy?

Answer 2

Autosomal recessive

Question 3

What are features of spinal muscular atrophy?

Answer 3

Lower motor neurone signs

• fasiculations
• reduced muscle bulk
• reduced tone
• reduced power
• reduced/absent reflexes

Question 4

What are the types of spinal muscular atropy?`

Answer 4

SMA 1 - onset in first few months
SMA 2 - onset in first 18 month s
SMA 3 - onset after first years
SMA 4 - onset in 20s

Question 5

How is spinal muscular atrophy managed?

Answer 5

MDT

Respiratory support
PEG feeding