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