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.
|
Motor delay
Dystonia, axial Abnormal central motor function Dystonia (any or unspecified) Dysarthria Dystonia, generalized Delayed gross motor development Abnormality of skeletal morphology Choreoathetosis Dysphagia Developmental regression NMS parkinsonism Short stature Dystonia, craniofacial Cognitive impairment Show more (+12) |
Developmental regression
|
|
No
|
♂
|
C
|
ROU
|
3
|
15
|
n.a.
|
Dysphagia
Developmental regression Delayed gross motor development Delayed speech and language development Dysarthria NMS parkinsonism Dystonia, craniofacial Dystonia (any or unspecified) Myoclonus Dystonia, axial Dystonia, generalized Abnormal central motor function Abnormality of skeletal morphology Motor delay Choreoathetosis Show more (+12) |
Dystonia, axial
|
|
Yes
|
♀
|
O
|
HND
|
2
|
17
|
No
|
Hyperreflexia
Spasticity Choreoathetosis Delayed speech and language development Dystonia, craniofacial Abnormal central motor function Dystonia (any or unspecified) Dystonia, generalized Motor delay Developmental regression Myoclonus Delayed gross motor development Dysarthria Delayed fine motor development Short stature Dystonia, limb Dystonia, axial Show more (+14) |
Dysarthria
Dystonia, axial |
|
Yes
|
♀
|
C
|
FRA
|
16
|
24
|
No
|
Dystonia, generalized
Rigidity Dystonia, oromandibular Dystonia, limb Bradykinesia Dystonia (any or unspecified) Mri brain abnormality Dysarthria Abnormality of skeletal morphology Parkinsonism Dystonia, craniofacial Short stature Abnormal central motor function Dystonia, hand Show more (+11) |
Dystonia, hand
|