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