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