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