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.
|
Dystonia,task-specific
Dysphonia Dystonia, oromandibular Dystonia, laryngeal Dystonia, cervical Dystonia, hand Bradykinesia Dystonia, arm Dystonia (any or unspecified) Global developmental delay Dystonia, craniofacial Dystonia, generalized Delayed speech and language development Dystonia, leg Parkinsonism Dystonia, limb Dystonia, tongue Show more (+14) |
Dystonia, leg
Dystonia, limb |
|
No
|
♂
|
O
|
BRA
|
11
|
32
|
n.a.
|
Dystonia, craniofacial
Dystonia, limb Dystonia, foot Dystonia, hand Dysphonia Dystonia,task-specific Dystonia, generalized Dystonia, arm Retrocollis Dystonia, axial Dystonia, cervical Dystonia, oromandibular Dystonia, laryngeal Dystonia (any or unspecified) Show more (+11) |
Dystonia, limb
Dystonia, foot |
|
No
|
♂
|
O
|
BRA
|
2
|
19
|
n.a.
|
Dystonia, craniofacial
Dystonia, leg Dystonia, oromandibular Cognitive impairment Global developmental delay Dystonia,task-specific Dysphonia Dystonia (any or unspecified) Dystonia, generalized Dystonia, axial Dystonia, limb Motor delay Bradykinesia Dystonia, hand Dystonia, laryngeal Show more (+12) |
Dystonia, limb
|
|
No
|
♂
|
O
|
BRA
|
11
|
34
|
n.a.
|
Dysarthria
Geste antagoniste Dystonia, foot Dystonia, leg Dystonia, hand Dystonia (any or unspecified) Dystonia, arm Dystonia, cervical Dystonia, oromandibular Global developmental delay Dystonia, craniofacial Delayed speech and language development Dystonia, tongue Dysphonia Dystonia, generalized Parkinsonism Dystonia,task-specific Dystonia, axial Dystonia, limb Motor delay Dystonia, laryngeal Retrocollis Show more (+19) |
Dystonia, hand
Dystonia, limb |
|
No
|
♀
|
O
|
BRA
|
2
|
48
|
n.a.
|
Postural tremor
Dysphonia Tremor (any or unspecified) Dystonia, axial Dystonia, tongue Dystonia, oromandibular Dystonia, generalized Tremor, limb Global developmental delay Bradykinesia Dystonia, limb Dystonia, leg Dystonia,task-specific Rigidity Dystonia, laryngeal Dystonia (any or unspecified) Resting tremor Parkinsonism Dystonia, craniofacial Delayed speech and language development Dystonia, foot Dystonia, hand Show more (+19) |
Dysphonia
Dystonia, laryngeal |
|
No
|
♂
|
O
|
BRA
|
18
|
64
|
n.a.
|
Dystonia, arm
Dystonia, axial Bradykinesia Dystonia, laryngeal Dystonia, limb Dystonia, generalized Dystonia, cervical Dysphonia Dystonia,task-specific Dystonia, leg Dystonia, hand Dystonia (any or unspecified) Dystonia, craniofacial Dysarthria Parkinsonism Dystonia, oromandibular Show more (+13) |
Dystonia, limb
Dystonia, leg |
|
Yes
|
♀
|
O
|
BRA
|
7
|
42
|
n.a.
|
Parkinsonism
Dysphonia Dystonia,task-specific Dystonia, axial Dystonia, tongue Dystonia, foot Dystonia, oromandibular Dystonia, laryngeal Dystonia, limb Dystonia, leg Dystonia (any or unspecified) Anarthria Dystonia, hand Rigidity Dystonia, generalized Bradykinesia Dystonia, craniofacial Show more (+14) |
Dystonia, limb
Dystonia, hand |