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