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