Ostergaard, 2009: Overview of all reported PxMD-PDHA1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
DNK
3
4
n.a.
Muscular hypotonia (interictal)
Seizures
Muscular hypotonia
Dystonia (any or unspecified)
Global development delay
Delayed cognitive development
Cognitive impairment
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Seizures
Yes
n.a.
TUR
3
12
No
Muscular hypotonia
Cognitive impairment
Ataxia
Muscular hypotonia
Ataxia
No
n.a.
DNK
3
3
n.a.
Delayed cognitive development
Muscular hypotonia (interictal)
Dystonia (any or unspecified)
Global development delay
Cognitive impairment
Visual disturbance
Vomiting
Hemiplegia
Muscular hypotonia
Spasticity
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Vomiting