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