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
Choreoathetosis
Respiratory distress
Visual disturbance
Seizures (interictal)
Muscle weakness (interictal)
Nystagmus
Muscle weakness
Hypertonia
Seizures
Muscular hypotonia (interictal)
Show more (+8)
Respiratory distress
Seizures
No
C
n.a.
0
18
n.a.
Cognitive impairment (interictal)
Global development delay
Headache (interictal)
Hypertonia
Fatigue
Seizures
Headache
Muscular hypotonia (interictal)
Ataxia (interictal)
Short stature
-Tremor (interictal)
Muscular hypotonia
Tremor (any or unspecified)
Respiratory distress
Cognitive impairment
Ataxia
Seizures (interictal)
Show more (+14)
Global development delay
Muscular hypotonia
p.Lys387*: het
No
C
n.a.
3
4
n.a.
Respiratory distress
-Tremor (interictal)
Tremor (any or unspecified)
Muscular hypotonia
Muscle weakness
Muscle weakness (interictal)
Muscular hypotonia (interictal)
Ataxia
Show more (+5)
Tremor (any or unspecified)
Muscle weakness
No
C
n.a.
0
n.a.
n.a.
Visual disturbance
Microcephaly
-Spasticity (interictal)
Respiratory distress
Muscle weakness (interictal)
Spasticity
Muscle weakness
Show more (+4)
n.a.
No
C
n.a.
0
6
n.a.
-Dystonia (interictal)
Microcephaly
Ataxia
Hypertonia
Ataxia (interictal)
Choreoathetosis
Seizures (interictal)
Dystonia (any or unspecified)
Seizures
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n.a.
No
C
n.a.
10
n.a.
n.a.
Muscular hypotonia (interictal)
Dystonia (any or unspecified)
Respiratory distress
-Spasticity (interictal)
Spasticity
-Dystonia (ictal)
Seizures (interictal)
Muscle weakness
Muscular hypotonia
Muscle weakness (interictal)
Short stature
Hypertonia
Seizures
Show more (+10)
Respiratory distress
Seizures
No
C
n.a.
1
9
n.a.
Dysarthria
Muscular hypotonia
Seizures
Ataxia
Dysphagia
Fatigue
Ataxia (ictal)
Tremor (any or unspecified)
Muscular hypotonia (interictal)
Respiratory distress
Show more (+7)
Ataxia (ictal)
No
C
n.a.
2
10
n.a.
Chorea
-Muscle weakness (ictal)
Short stature
Dysarthria
Headache
Dystonia (any or unspecified)
Hypertonia
Ataxia
Choreoathetosis
Muscle weakness
Hemiplegia
Muscular hypotonia (ictal)
Ataxia (ictal)
Muscular hypotonia
Show more (+11)
Ataxia (ictal)