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