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