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