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.
|
Muscular hypotonia
Seizures (interictal) Muscle weakness Choreoathetosis Muscular hypotonia (interictal) Visual disturbance Hypertonia Muscle weakness (interictal) Nystagmus Respiratory distress Seizures Show more (+8) |
Respiratory distress
Seizures |
|
No
|
♀
|
C
|
n.a.
|
0
|
18
|
n.a.
|
Ataxia
Cognitive impairment Global development delay Ataxia (interictal) Hypertonia Cognitive impairment (interictal) Seizures (interictal) Muscular hypotonia Tremor (any or unspecified) Muscular hypotonia (interictal) Respiratory distress Short stature Headache -Tremor (interictal) Headache (interictal) Fatigue Seizures Show more (+14) |
Global development delay
Muscular hypotonia |
|
No
|
♂
|
C
|
n.a.
|
3
|
4
|
n.a.
|
Muscular hypotonia (interictal)
Muscle weakness (interictal) -Tremor (interictal) Tremor (any or unspecified) Respiratory distress Ataxia Muscular hypotonia Muscle weakness Show more (+5) |
Tremor (any or unspecified)
Muscle weakness |
|
No
|
♀
|
C
|
n.a.
|
0
|
n.a.
|
n.a.
|
Muscle weakness (interictal)
Spasticity Microcephaly Respiratory distress Muscle weakness -Spasticity (interictal) Visual disturbance Show more (+4) |
n.a.
|
|
No
|
♀
|
C
|
n.a.
|
0
|
6
|
n.a.
|
Choreoathetosis
Microcephaly Seizures (interictal) Seizures -Dystonia (interictal) Ataxia (interictal) Dystonia (any or unspecified) Hypertonia Ataxia Show more (+6) |
n.a.
|
|
No
|
♂
|
C
|
n.a.
|
10
|
n.a.
|
n.a.
|
Seizures
Muscle weakness Respiratory distress Muscle weakness (interictal) Short stature -Dystonia (ictal) Hypertonia Muscular hypotonia Seizures (interictal) Spasticity -Spasticity (interictal) Dystonia (any or unspecified) Muscular hypotonia (interictal) Show more (+10) |
Seizures
Respiratory distress |
|
No
|
♂
|
C
|
n.a.
|
1
|
9
|
n.a.
|
Dysphagia
Respiratory distress Fatigue Tremor (any or unspecified) Ataxia (ictal) Dysarthria Muscular hypotonia Ataxia Muscular hypotonia (interictal) Seizures Show more (+7) |
Ataxia (ictal)
|
|
No
|
♂
|
C
|
n.a.
|
2
|
10
|
n.a.
|
Hypertonia
Dystonia (any or unspecified) Muscular hypotonia (ictal) Short stature Choreoathetosis Hemiplegia Muscular hypotonia Chorea -Muscle weakness (ictal) Ataxia (ictal) Dysarthria Headache Ataxia Muscle weakness Show more (+11) |
Ataxia (ictal)
|