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
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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
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Global development delay
Muscular hypotonia
p.Lys387*: het
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)
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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
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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
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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
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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
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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
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Ataxia (ictal)