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