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