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