Roze, 2005: Overview of all reported DYT/PARK-GLB1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
ROU
7
19
n.a.
Dysphagia
Abnormal central motor function
Abnormality of skeletal morphology
Delayed gross motor development
Motor delay
Dysarthria
NMS parkinsonism
Choreoathetosis
Dystonia, axial
Dystonia, generalized
Dystonia (any or unspecified)
Developmental regression
Dystonia, craniofacial
Cognitive impairment
Short stature
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Developmental regression
No
C
ROU
3
15
n.a.
Dystonia (any or unspecified)
Myoclonus
Abnormal central motor function
Dystonia, axial
Dysphagia
Delayed gross motor development
Abnormality of skeletal morphology
Dysarthria
Delayed speech and language development
Motor delay
Dystonia, generalized
NMS parkinsonism
Dystonia, craniofacial
Developmental regression
Choreoathetosis
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Dystonia, axial
Yes
O
HND
2
17
No
Spasticity
Delayed speech and language development
Short stature
Delayed fine motor development
Dystonia, axial
Motor delay
Abnormal central motor function
Dystonia (any or unspecified)
Myoclonus
Dystonia, craniofacial
Choreoathetosis
Dystonia, generalized
Dysarthria
Dystonia, limb
Developmental regression
Hyperreflexia
Delayed gross motor development
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Dystonia, axial
Dysarthria
Yes
C
FRA
16
24
No
Abnormality of skeletal morphology
Dysarthria
Bradykinesia
Dystonia, generalized
Dystonia, craniofacial
Abnormal central motor function
Rigidity
Dystonia (any or unspecified)
Parkinsonism
Dystonia, oromandibular
Dystonia, hand
Mri brain abnormality
Dystonia, limb
Short stature
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Dystonia, hand