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