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