Spinal Muscular Atrophy

Question 1

What is spinal muscular atrophy?

Answer 1

-Autosomal recessive disorder that causes loss of anterior horn cells in spinal cord

Question 2

What are most common form of spinal muscular atrophy?

Answer 2

Due to deficiency in SMN1 gene

Question 3

Presentation of spinal muscular atrophy?

Answer 3

• Usually presents in babies
• Hypotonia and muscle weakness can occur (floppy and weak baby)
• Can cause respiratory failure if condition affects respiratory uscles

Question 4

Management spinal muscular atrophy?

Answer 4

• Treatments have been developed that get similar gene SMN2 to keep this essential exon 7 in its mature mRNA
• This prevents progression of the disease but doesn’t reverse what has already happened
• Baby could be instantly treated and disability prevented