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