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