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