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