van Dongen, 2015: Overview of all reported PxMD-PDHA1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
n.a.
|
0
|
n.a.
|
n.a.
|
Seizures
Muscle weakness (interictal) Choreoathetosis Muscular hypotonia (interictal) Muscular hypotonia Seizures (interictal) Nystagmus Muscle weakness Respiratory distress Hypertonia Visual disturbance Show more (+8) |
Seizures
Respiratory distress |
|
No
|
♀
|
C
|
n.a.
|
0
|
18
|
n.a.
|
Ataxia
Ataxia (interictal) Short stature Headache (interictal) Muscular hypotonia (interictal) Fatigue Muscular hypotonia Seizures (interictal) Respiratory distress Cognitive impairment Tremor (any or unspecified) Global development delay Hypertonia -Tremor (interictal) Cognitive impairment (interictal) Headache Seizures Show more (+14) |
Muscular hypotonia
Global development delay |
|
No
|
♂
|
C
|
n.a.
|
3
|
4
|
n.a.
|
Ataxia
Tremor (any or unspecified) -Tremor (interictal) Muscular hypotonia (interictal) Muscular hypotonia Muscle weakness Muscle weakness (interictal) Respiratory distress Show more (+5) |
Tremor (any or unspecified)
Muscle weakness |
|
No
|
♀
|
C
|
n.a.
|
0
|
n.a.
|
n.a.
|
Spasticity
Microcephaly Visual disturbance Muscle weakness (interictal) -Spasticity (interictal) Respiratory distress Muscle weakness Show more (+4) |
n.a.
|
|
No
|
♀
|
C
|
n.a.
|
0
|
6
|
n.a.
|
Seizures (interictal)
Dystonia (any or unspecified) -Dystonia (interictal) Ataxia Hypertonia Ataxia (interictal) Choreoathetosis Microcephaly Seizures Show more (+6) |
n.a.
|
|
No
|
♂
|
C
|
n.a.
|
10
|
n.a.
|
n.a.
|
Respiratory distress
-Dystonia (ictal) Muscle weakness (interictal) Hypertonia Dystonia (any or unspecified) Muscle weakness Spasticity Seizures (interictal) Seizures Muscular hypotonia (interictal) Short stature -Spasticity (interictal) Muscular hypotonia Show more (+10) |
Respiratory distress
Seizures |
|
No
|
♂
|
C
|
n.a.
|
1
|
9
|
n.a.
|
Seizures
Ataxia (ictal) Dysphagia Fatigue Respiratory distress Dysarthria Muscular hypotonia Muscular hypotonia (interictal) Ataxia Tremor (any or unspecified) Show more (+7) |
Ataxia (ictal)
|
|
No
|
♂
|
C
|
n.a.
|
2
|
10
|
n.a.
|
Choreoathetosis
Chorea Ataxia (ictal) Hemiplegia Muscle weakness Muscular hypotonia (ictal) Hypertonia Short stature Dysarthria -Muscle weakness (ictal) Ataxia Muscular hypotonia Dystonia (any or unspecified) Headache Show more (+11) |
Ataxia (ictal)
|