Kannebley, 2015: 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
|
♀
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Dystonia (any or unspecified)
Dystonia, lower face Dysarthria Ophthalmologic abnormalities Dysphagia Amyotrophy Dystonia, craniofacial Facial grimacing Short stature Dystonia, limb Upper motor neuron dysfunction Abnormal central motor function Abnormality of skeletal morphology Show more (+10) |
Abnormality of skeletal morphology
|
|
Yes
|
♀
|
n.a.
|
BRA
|
17
|
n.a.
|
No
|
Amyotrophy
Cognitive impairment Dystonia, limb Dysarthria Dystonia (any or unspecified) Facial grimacing Dystonia, craniofacial Dysphagia Dystonia, lower face Abnormality of skeletal morphology Abnormal central motor function Short stature Show more (+9) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Facial grimacing
Short stature Dystonia (any or unspecified) Dysarthria Abnormal central motor function Abnormality of skeletal morphology Developmental regression Dystonia, limb Dystonia, craniofacial Dystonia, lower face Show more (+7) |
Dysarthria
Developmental regression |
|
Yes
|
♂
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Facial grimacing
Short stature Amyotrophy Gait disturbance Abnormal central motor function Dystonia, craniofacial Dysarthria Dystonia (any or unspecified) Dystonia, limb Upper motor neuron dysfunction Dysphagia Abnormality of skeletal morphology Dystonia, lower face Show more (+10) |
Gait disturbance
|
|
Yes
|
♀
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Amyotrophy
Dystonia, limb Dystonia, lower face Dystonia (any or unspecified) Abnormal central motor function Developmental regression Short stature Upper motor neuron dysfunction Dysarthria Dystonia, craniofacial Facial grimacing Abnormality of skeletal morphology Show more (+9) |
Developmental regression
Dysarthria |
|
Yes
|
♂
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Developmental regression
Dystonia, limb Facial grimacing Abnormality of skeletal morphology Ataxia Short stature Abnormal central motor function Dysarthria Dysphagia Gait disturbance Dystonia (any or unspecified) Dystonia, craniofacial Amyotrophy Dystonia, lower face Upper motor neuron dysfunction Show more (+12) |
Gait disturbance
|
|
Yes
|
♂
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Abnormal central motor function
Dystonia, lower face Upper motor neuron dysfunction Dysarthria Amyotrophy Dysphagia Short stature Global developmental delay Abnormality of skeletal morphology Dystonia, craniofacial Facial grimacing Dystonia (any or unspecified) Dystonia, limb Show more (+10) |
Global developmental delay
|
|
Yes
|
♀
|
n.a.
|
BRA
|
n.a.
|
n.a.
|
No
|
Dystonia, lower face
Dystonia (any or unspecified) Amyotrophy Short stature Dysphagia Upper motor neuron dysfunction Dystonia, craniofacial Abnormality of skeletal morphology Gait disturbance Dystonia, limb Dysarthria Global developmental delay Facial grimacing Abnormal central motor function Show more (+11) |
Gait disturbance
Global developmental delay |