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