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