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