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