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