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