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