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