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