| Part 2: Genetic mutations and treatments | ||||||||
|---|---|---|---|---|---|---|---|---|
| Families | No | Age range (y) | Mutation | Nucleotide aberration | Megalastat sensible | ERT | Treatment duration (y) | Other treatments |
| 1 | 1 | 15–19 | IVS4-2 A>T | c.640-2A>T | − | AA | 3 | |
| 2 | 20–24 | IVS4-2 A>T | c.640-2A>T | − | AA | 3 | ||
| 3 | 25–29 | IVS4-2 A>T | c.640-2A>T | − | AA | 0.5 | ||
| 4 | 45–49 | IVS4-2 A>T | c.640-2A>T | − | - | 0 | Anti AHT | |
| 2 | 5 | 25–29 | p.A143T | c.427G > A | + | - | 0 | |
| 6 | 30–34 | p.A143T | c.427G>A | + | AB | 3 | ||
| 7 | 60–65 | p.A143T | c.427G>A | + | AB | 0.5 | Anti vertiginous | |
| 3 | 8 | 10–14 | p.M42R | c.125 T>G | + | - | 0 | |
| 9 | 5–9 | p.M42R | c.125 T>G | + | - | 0 | ||
| 10 | 35–39 | p.M42R | c.125 T>G | + | AA | 1 | Anti AHT | |
| 11 | 35–39 | p.M42R | c.125 T>G | + | - | 0 | Vestibular Rehabilitation, anti vertiginous | |
| 12 | 40–44 | p.M42R | c.125 T>G | + | AA | 1 | ||
| 4 | 13 | 35–39 | p.P205S | c.613 C>T | + | - | 0 | Antiepileptic |
| 14 | 40–44 | p.P205S | c.613 C>T | + | - | 0 | Balance Rehabilitation | |
| 5 | 15 | 50–54 | del 50 pb Ex7 | del 50 pb Ex7 | − | AA | 5 | |
| 6 | 16 | 40–44 | - | − | - | AA | 4 | |
Anti AHT, anti-arterial hypertension; HCM, hypertrophic cardiomyopathy; CV, cornea verticillata; ESRD, End-stage renal disease; VVS, vasovagal syndrome; ERT, Enzyme replacement therapy; AA, AB, agalsidase alfa, beta; MRI, Magnetic Resonance imaging.