Spinal muscular atrophy Flashcards
1
Q
What is the inheritance pattern of spinal muscular atrophy?
A
Autosomal recessive
2
Q
What are some SSx of SMA?
A
Two types:
Early infancy - severe hypotonia and weakness
Later childhood - late onset
Hypotonia Generalised weakness Absent or reduced reflexes Fasciculations (of tongue, deltoid and biceps) Developmental delay
3
Q
What is 1st line investigation for SMA?
A
Genetic testing for SMN gene
4
Q
What is the gold standard for diagnosis?
A
Muscle biopsy
