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