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