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