A multicenter study on Leigh syndrome: disease course and predictors of survival

Table 1 Clinical presentation and disease course for the 13 patients with the latest disease onset (above 4.9 years)

ID*	Age of onset	Clinical features at onset	Exacerbations/relapses requiring hospitalisation	Survival status	Genetic etiology
84	5 y 1 m	Hypotonia, mental retardation	No	Alive at 7 y 6 m	Unknown
66	4 y 11 m	Dystonia, spasticity, hyperreflexia	No	Alive at 33 y	C20orf7
94	8 y1 m	Dystonia, hypertonia	No	Alive at 18 y 10 m	Unknown
95	18 y 8 m	Gastrointestinal symptoms	Yes	Died at 19 y 6 m	Unknown
15	6 y 7 m	Hypotonia, ophthalmoplegia, fatigue	No	Alive at 14 y 7 m	MT-ATP6
99	5 y 9 m	Hypotonia, pos Babinski sign, ophthalmoplegia	Yes	Alive at 33 y	Unknown
103	6 y 5 m	Dystonia, hypertonia, pos Babinski sign	No	Alive at 8 y 6 m	Unknown
114	7 y	Dystonia	No	Lost to follow-up at 10 y	Unknown
118	7 y	Gastrointestinal symptoms	No	Alive at 12 y 5 m	Unknown
5	6 y	Discoordination	No	Alive at 19 y 8 m	MT-ND3
124	10 y 5 m	Hypo-hypertonia, dystonia, hypokinesia, dysarthria, hyperreflexia, sucking dysfunction, bradyphrenia	Yes	Alive at 20 y 8 m	Unknown
127	8 y 2 m	Hypertonia, hyperreflexia	No	Alive at 14 y	Unknown
25	19 y	Spasticity, hemiparesis	No	Alive at 58 y	MT-ATP6

*The ID numbers correspond to the ID numbers of the respective patients on Table 4.
Y years; m months.

ISSN: 1750-1172