Patient number/Gender | Sibship | Date of birth | Age at diagnosis | Age at last FU/deatha | Neonatal LD | HS/S | Seizures/cataplexy | VSGP | Dev. delay | Ataxia | Swallowing problems | Psychiatric disturbance | Slurred speech | Miglustat? | Age at 1st miglustat start | Miglustat duration | Genetic mutations |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1/M | – | 2000 | 4 m | 4 ma | PJ LD | HS | – | – | From birth | – | – | – | – | No | – | – | – |
2/F | a | 2001 | PM | 0a | FA | – | – | – | – | – | – | – | – | No | – | – | – |
3/F | a | 2002 | PM | 0a | FA | – | – | – | – | – | – | – | – | No | – | – | – |
4/M | b | 1985 | Birth | 1 ma | Yes | Yes | – | – | – | – | – | – | – | No | – | – | c.3501C > G(p.Phe1167Leu)/c.3501C > G(p.Phe1167Leu) |
5/M | b | 1985 | Birth | 2 ma | Yes | Yes | – | – | – | – | – | – | – | No | – | – | c.3501C > G(p.Phe1167Leu)/c.3501C > G(p.Phe1167Leu) |
6/F | c | 2009 | 2 m | 7 ma | Yes | Yes | – | – | – | – | – | – | – | No | – | – | c.3020C > T(p.Pro1007Leu)/c.3020C > T(p.Pro1007Leu) |