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