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.
|
Dystonia, generalized
Dystonia, limb Dystonia (any or unspecified) Cognitive impairment Rigidity Tremor (any or unspecified) Bradykinesia Dysarthria Torticollis Dystonia, cervical Dystonia, arm Geste antagoniste Dystonia, craniofacial Dystonia, foot Tremor, limb Dystonia, laryngeal Parkinsonism Dysphonia Dystonia, oromandibular Show more (+16) |
Dysarthria
Dystonia, laryngeal Dysphonia |
|
No
|
♂
|
C
|
ITA
|
8
|
43
|
n.a.
|
Cognitive impairment
Dystonia, generalized Parkinsonism Dystonia, laryngeal Dystonia (any or unspecified) Bradykinesia Dystonia, leg Dystonia, arm Dystonia, limb Dysphonia Dystonia, foot Dystonia, axial Dystonia, cervical Rigidity Show more (+11) |
Dystonia, laryngeal
Bradykinesia Dysphonia |
|
No
|
♂
|
C
|
ITA
|
3
|
35
|
n.a.
|
Dystonia, arm
Parkinsonism Dystonia, laryngeal Dysarthria Dystonia, foot Dystonia, generalized Dystonia, limb Cognitive impairment Muscular hypotonia Dystonia, leg Bradykinesia Dystonia (any or unspecified) Show more (+9) |
Dystonia, limb
|