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