Quadri, 2016: Overview of all reported DYT-PRKRA patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
C
|
ITA
|
4
|
38
|
n.a.
|
Geste antagoniste
Dystonia, laryngeal Dystonia, craniofacial Dystonia (any or unspecified) Dystonia, limb Cognitive impairment Dystonia, oromandibular Tremor (any or unspecified) Dysarthria Dystonia, cervical Dystonia, arm Parkinsonism Tremor, limb Rigidity Dysphonia Dystonia, generalized Dystonia, foot Bradykinesia Torticollis Show more (+16) |
Dystonia, laryngeal
Dysarthria Dysphonia |
|
No
|
♂
|
C
|
ITA
|
8
|
43
|
n.a.
|
Dystonia, generalized
Dystonia (any or unspecified) Dystonia, foot Parkinsonism Rigidity Dysphonia Dystonia, laryngeal Dystonia, cervical Cognitive impairment Dystonia, leg Dystonia, arm Bradykinesia Dystonia, limb Dystonia, axial Show more (+11) |
Dysphonia
Dystonia, laryngeal Bradykinesia |
|
No
|
♂
|
C
|
ITA
|
3
|
35
|
n.a.
|
Cognitive impairment
Dysarthria Dystonia (any or unspecified) Bradykinesia Parkinsonism Dystonia, laryngeal Dystonia, foot Muscular hypotonia Dystonia, leg Dystonia, limb Dystonia, generalized Dystonia, arm Show more (+9) |
Dystonia, limb
|