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