Quintana, 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.
n.a.
10
No
Delayed cognitive development
Cognitive impairment
Dystonia (any or unspecified)
Global development delay
Hemiplegia
Show more (+2)
n.a.
Yes
n.a.
n.a.
n.a.
7
No
Delayed cognitive development
Global development delay
Microcephaly
Ataxia
Cognitive impairment
Cerebellar atrophy
Seizures (ictal)
Cognitive impairment (interictal)
Seizures
Muscular hypotonia
Show more (+7)
n.a.
Yes
n.a.
n.a.
n.a.
23
No
Cognitive impairment (interictal)
Cerebellar atrophy
Spasticity
Cognitive impairment
Dysarthria
Global development delay
Ataxia
Delayed cognitive development
Show more (+5)
n.a.
Yes
n.a.
n.a.
n.a.
n.a.
No
Microcephaly
Cognitive impairment
Global development delay
Seizures
Cognitive impairment (interictal)
Seizures (ictal)
Spasticity
Muscular hypotonia
Delayed cognitive development
Show more (+6)
n.a.