| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
I
|
PAK
|
0
|
4
|
Yes
|
Tremor (any or unspecified)
Spasticity Dystonia (any or unspecified) Hyperreflexia Developmental delay/intellectual disability Parkinsonism Motor delay Rigidity Muscular hypotonia Resting tremor Bradykinesia Dystonia, parkinsonism or dyskinesia Show more (+9) |
Parkinsonism
Muscular hypotonia |
|
Yes
|
♀
|
C
|
n.a.
|
0
|
11
|
No
|
Dystonia (any or unspecified)
Dyskinesia, orolingual Dystonia, parkinsonism or dyskinesia Saccade initiation failure Dystonia, foot Rigidity Parkinsonism Dystonia, arm Spasticity Slow saccades Developmental delay/intellectual disability Dystonic crisis Bradykinesia Motor delay Chorea Resting tremor Ocular flutter Dystonia, limb Hyperreflexia Muscular hypotonia Tremor (any or unspecified) Show more (+18) |
Parkinsonism
Muscular hypotonia |
|
Yes
|
♂
|
I
|
PAK
|
0
|
6
|
Yes
|
Dystonia, parkinsonism or dyskinesia
Dystonia, limb Dystonia (any or unspecified) Developmental delay/intellectual disability Motor delay Muscular hypotonia Rigidity Hyperreflexia Bradykinesia Dystonia, arm Parkinsonism Dyskinesia, orolingual Resting tremor Spasticity Tremor (any or unspecified) Show more (+12) |
Muscular hypotonia
Parkinsonism |