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