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