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