| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
3
|
19
|
n.a.
|
Dystonia (any or unspecified)
Tremor, limb Hyperreflexia Tremor, intention Seizures Spasticity Abnormality of skeletal morphology Tremor, action Mri brain abnormality Upper motor neuron dysfunction Abnormal central motor function Dystonia, generalized Cognitive impairment Dysarthria Developmental regression Show more (+12) |
Spasticity
|