Barnerias, 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.
|
0
|
7
|
n.a.
|
Seizures
Cognitive impairment Delayed cognitive development Muscular hypotonia Global development delay Ataxia Muscular hypotonia (interictal) Ataxia (ictal) Show more (+5) |
Muscular hypotonia
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
15
|
n.a.
|
Delayed cognitive development
Microcephaly Cognitive impairment Dystonia (any or unspecified) Seizures Global development delay Visual disturbance Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
17
|
n.a.
|
Seizures
Dystonia (any or unspecified) Cognitive impairment Ataxia (ictal) Ataxia Global development delay Delayed cognitive development Show more (+4) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
2
|
n.a.
|
Dystonia (any or unspecified)
Ataxia Global development delay Cognitive impairment Delayed cognitive development Show more (+2) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
6
|
n.a.
|
Ataxia
Global development delay Cognitive impairment Muscular hypotonia (interictal) Delayed cognitive development Muscular hypotonia Show more (+3) |
Muscular hypotonia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
8
|
n.a.
|
-Dystonia (ictal)
Dystonia (any or unspecified) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
22
|
n.a.
|
Dystonia (any or unspecified)
Muscular hypotonia Ataxia Ataxia (ictal) Muscular hypotonia (ictal) -Dystonia (ictal) Show more (+3) |
Muscular hypotonia
Ataxia |
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
4
|
n.a.
|
Ataxia (ictal)
Cognitive impairment Global development delay Ataxia Delayed cognitive development Show more (+2) |
n.a.
|