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