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