Spinal Muscular Atrophy Flashcards
How many types?
4, but main ones are the first 3
What is the other name for Type 1and number of SMN copies
Werdnig-Hoffman Disease
Number of SMN2 copies: 2
What is the other name for Type 2 and number of SMN copies
Dubowitz Syndrome
Number of SMN2 Copies: 3 or 4
What is the other name for Type 3 and number of SMN copies
Kugelberg-Welander Disease
Number of SMN2 Copies: 3 or 4
Type 4; number of SMN copies
Number of SMN2 Copies: 4-8
Onset: Adulthood
Spinal injection treatment?
Spinraza (Nusinersen)
Increased production of SMN protein
What is the SMN protein?
Survival motor neuron protein
Other treatments?
Zolgensma - gene replacement therapy; single intravenous injection
Aims to halt progression if given early enough
Oral treatment?
Evrysdi (Risdiplam) - daily oral medication
Makes SMN
Where in the nervous system is affected?
Motor neuron - CNS, PNS and Voluntary muscles
Is SMN autosomal recessive or dominant
Autosomal recessive
What chromosome does it affect
Chromosome 5
What causes SMA
Insufficient levels of SMN protein
Type 1 age of onset
Before 6 months
Type 2 age of onset
6-18 months
Type 3 age of onset
After 18 months
Type 1 movement prognosis
They will never sit, stand or walk
Type 2 movement prognosis
They will never walk, but can sit
Type 3 movement prognosis
They will need assistance to walk with mild muscle weakness
What age will Type 1 die
Aged 2
Which type has the best prognosis
Type 3
Are reflexes present
No
Does type 2 affect arms of legs more
Legs
What other problems present
Respiratory problems, due to muscle weakness
