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