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