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