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