Barnerias, 2010: Overview of all reported PxMD-PDHA1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
0
7
n.a.
Global development delay
Cognitive impairment
Delayed cognitive development
Muscular hypotonia
Ataxia
Ataxia (ictal)
Seizures
Muscular hypotonia (interictal)
Show more (+5)
Muscular hypotonia
Yes
n.a.
n.a.
0
15
n.a.
Seizures
Global development delay
Microcephaly
Delayed cognitive development
Cognitive impairment
Visual disturbance
Dystonia (any or unspecified)
Show more (+4)
n.a.
Yes
n.a.
n.a.
0
17
n.a.
Dystonia (any or unspecified)
Ataxia
Ataxia (ictal)
Cognitive impairment
Seizures
Delayed cognitive development
Global development delay
Show more (+4)
n.a.
Yes
n.a.
n.a.
1
2
n.a.
Dystonia (any or unspecified)
Delayed cognitive development
Ataxia
Global development delay
Cognitive impairment
Show more (+2)
n.a.
Yes
n.a.
n.a.
0
6
n.a.
Ataxia
Delayed cognitive development
Muscular hypotonia
Muscular hypotonia (interictal)
Cognitive impairment
Global development delay
Show more (+3)
Muscular hypotonia
Yes
n.a.
n.a.
0
8
n.a.
-Dystonia (ictal)
Dystonia (any or unspecified)
n.a.
Yes
n.a.
n.a.
2
22
n.a.
-Dystonia (ictal)
Dystonia (any or unspecified)
Ataxia (ictal)
Muscular hypotonia (ictal)
Ataxia
Muscular hypotonia
Show more (+3)
Ataxia
Muscular hypotonia
Yes
n.a.
n.a.
0
4
n.a.
Global development delay
Ataxia
Cognitive impairment
Ataxia (ictal)
Delayed cognitive development
Show more (+2)
n.a.