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