Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
PHL
|
32
|
36
|
n.a.
|
Dystonia, lower limb
Postural instability Bradykinesia Dystonia, axial Parkinsonism Dystonia, craniofacial Dystonia, upper limb Rigidity Dystonia (any or unspecified) Dystonia, combined Dystonia, cervical Dystonia, generalized Show more (+9) |
n.a.
|
|
Yes
|
♂
|
A
|
PHL
|
49
|
52
|
n.a.
|
Dystonia, craniofacial
Parkinsonism Dystonia, upper limb Dystonia, lower limb Postural instability Dystonia, generalized Tremor (any or unspecified) Dystonia, axial Dystonia, cervical Bradykinesia Resting tremor Dystonia (any or unspecified) Dystonia, combined Rigidity Show more (+11) |
Resting tremor
|
|
Yes
|
♀
|
A
|
PHL
|
51
|
56
|
n.a.
|
Dystonia, upper limb
Dystonia, combined Bradykinesia Dystonia, lower limb Parkinsonism Dystonia (any or unspecified) Rigidity Show more (+4) |
n.a.
|
|
Yes
|
♂
|
A
|
PHL
|
45
|
47
|
n.a.
|
Dystonia, cervical
Dystonia (any or unspecified) Dystonia, craniofacial Dystonia, axial Parkinsonism Bradykinesia Dystonia, combined Dystonia, generalized Show more (+5) |
Dystonia, craniofacial
|
|
Yes
|
♂
|
A
|
PHL
|
33
|
34
|
n.a.
|
Postural instability
Dystonia (any or unspecified) Bradykinesia Rigidity Dystonia, combined Dystonia, axial Dystonia, craniofacial Dystonia, lower limb Dystonia, cervical Dystonia, upper limb Parkinsonism Dystonia, generalized Show more (+9) |
Parkinsonism
|