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