Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
PHL
|
45
|
57
|
Yes
|
Dystonia, combined
Bradykinesia Parkinsonism Dystonia, lower limb Dystonia, axial Dystonia (any or unspecified) Dystonia, generalized Postural instability Dystonia, craniofacial Show more (+6) |
Dystonia, lower limb
|
|
Yes
|
♂
|
A
|
PHL
|
38
|
42
|
Yes
|
Dystonia, upper limb
Tremor (any or unspecified) Dystonia, craniofacial Dystonia (any or unspecified) Dystonia, generalized Dystonia, axial Parkinsonism Bradykinesia Dysarthria Resting tremor Dystonia, combined Rigidity Show more (+9) |
Rigidity
|
|
Yes
|
♂
|
A
|
PHL
|
32
|
39
|
Yes
|
Dystonia, combined
Dystonia (any or unspecified) Dystonia, axial Dystonia, generalized Dystonia, craniofacial Dystonia, laryngeal Dystonia, cervical Dystonia, lower limb Show more (+5) |
Dystonia, axial
|