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