Camargos, 2008: Overview of all reported DYT-PRKRA patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
O
|
BRA
|
12
|
35
|
n.a.
|
Dysphonia
Dystonia, laryngeal Global developmental delay Dystonia (any or unspecified) Dystonia, hand Dystonia, cervical Dystonia,task-specific Dystonia, arm Delayed speech and language development Dystonia, craniofacial Dystonia, leg Dystonia, oromandibular Dystonia, limb Bradykinesia Dystonia, tongue Parkinsonism Dystonia, generalized Show more (+14) |
Dystonia, leg
Dystonia, limb |
|
No
|
♂
|
O
|
BRA
|
11
|
32
|
n.a.
|
Dysphonia
Dystonia, laryngeal Dystonia, arm Dystonia, craniofacial Dystonia, oromandibular Dystonia, cervical Dystonia, generalized Dystonia,task-specific Dystonia, limb Dystonia, hand Dystonia, foot Dystonia (any or unspecified) Dystonia, axial Retrocollis Show more (+11) |
Dystonia, limb
Dystonia, foot |
|
No
|
♂
|
O
|
BRA
|
2
|
19
|
n.a.
|
Dystonia, hand
Dystonia, generalized Motor delay Cognitive impairment Dystonia, laryngeal Bradykinesia Dystonia, axial Dystonia (any or unspecified) Dystonia, leg Dystonia, craniofacial Dystonia, oromandibular Global developmental delay Dystonia, limb Dysphonia Dystonia,task-specific Show more (+12) |
Dystonia, limb
|
|
No
|
♂
|
O
|
BRA
|
11
|
34
|
n.a.
|
Delayed speech and language development
Dystonia, laryngeal Dysarthria Global developmental delay Dystonia, cervical Dystonia, generalized Dystonia, axial Dystonia, craniofacial Dystonia, limb Dystonia (any or unspecified) Dystonia, tongue Dystonia, leg Motor delay Dysphonia Dystonia, hand Dystonia, oromandibular Geste antagoniste Parkinsonism Dystonia,task-specific Dystonia, arm Dystonia, foot Retrocollis Show more (+19) |
Dystonia, limb
Dystonia, hand |
|
No
|
♀
|
O
|
BRA
|
2
|
48
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, laryngeal Dysphonia Dystonia, tongue Delayed speech and language development Dystonia, hand Dystonia, limb Dystonia,task-specific Rigidity Postural tremor Dystonia, craniofacial Tremor (any or unspecified) Dystonia, foot Dystonia, axial Parkinsonism Tremor, limb Global developmental delay Resting tremor Dystonia, oromandibular Bradykinesia Dystonia, leg Dystonia, generalized Show more (+19) |
Dystonia, laryngeal
Dysphonia |
|
No
|
♂
|
O
|
BRA
|
18
|
64
|
n.a.
|
Dysarthria
Parkinsonism Dystonia, craniofacial Dystonia, leg Dystonia, laryngeal Dystonia,task-specific Dysphonia Dystonia, axial Dystonia, hand Dystonia (any or unspecified) Bradykinesia Dystonia, generalized Dystonia, oromandibular Dystonia, arm Dystonia, cervical Dystonia, limb Show more (+13) |
Dystonia, leg
Dystonia, limb |
|
Yes
|
♀
|
O
|
BRA
|
7
|
42
|
n.a.
|
Dystonia, leg
Dystonia, craniofacial Dystonia, limb Dystonia, axial Anarthria Dystonia, generalized Parkinsonism Dystonia, foot Dystonia, hand Dysphonia Dystonia, oromandibular Dystonia (any or unspecified) Dystonia, tongue Bradykinesia Dystonia, laryngeal Rigidity Dystonia,task-specific Show more (+14) |
Dystonia, limb
Dystonia, hand |