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
Name another physical issue that can present
Scoliosis
The term ‘frog leg’ is used to describe type 1, what does this mean?
Proximal wasting and weakness - weakness
Life expectancy in type 2
Childhood to adulthood
Life expectancy in type 3
Normal life expectancy
What other failure occurs
Nutritional due to bulbar failure - growth issues
Name other presentations in type 2
Tremor
Tongue fasiculations
Are tongue fasiculations present in type 1
Yes
In respiratory failure in type 1, what is spared?
Diaphragm
