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