Deodato, 2017: 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
|
♀
|
C
|
ITA
|
4
|
8
|
n.a.
|
Dysmorphic features
Abnormality of skeletal morphology Bradykinesia Parkinsonism Sleep disorder Delayed gross motor development Postural instability Delayed fine motor development Dystonia (any or unspecified) Ataxia Dysarthria Cognitive impairment Rigidity Developmental regression Dystonia, limb Abnormal central motor function Anarthria Delayed speech and language development Global developmental delay Motor delay Show more (+17) |
Developmental regression
|
|
Yes
|
♀
|
C
|
ITA
|
3
|
10
|
n.a.
|
Dystonia, craniofacial
Postural instability Bradykinesia Motor delay Facial grimacing Anarthria Parkinsonism Delayed speech and language development Dystonia (any or unspecified) Mri brain abnormality Delayed gross motor development Dystonia, limb Cognitive impairment Sleep disorder Ataxia Rigidity Abnormal central motor function Dystonia, lower face Developmental regression Dysmorphic features Dysarthria Show more (+18) |
Developmental regression
|
|
Yes
|
♀
|
C
|
ITA
|
20
|
20
|
n.a.
|
Abnormal central motor function
Bradykinesia Ataxia Facial grimacing Postural instability Spasticity Delayed speech and language development Abnormality of skeletal morphology Dysmorphic features Hyperreflexia Developmental regression Upper motor neuron dysfunction Parkinsonism Dystonia, lower face Dysarthria Dystonia (any or unspecified) Dystonia, craniofacial Short stature Show more (+15) |
Developmental regression
Dysarthria |