| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
n.a.
|
1
|
10
|
n.a.
|
Hyperreflexia
Dystonia, segmental/multifocal Developmental regression Gait difficulties Lower limb dystonia Rigidity Spasticity Postural instability Developmental delay Delayed motor development Dystonia (any or unspecified) Dystonia, task-specific Dystonia, limb Autonomic sign/sympt. Show more (+11) |
Dystonia (any or unspecified)
|