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