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