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