| 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, generalized
Tremor, intention Dysarthria Developmental regression Cognitive impairment Abnormality of skeletal morphology Spasticity Abnormal central motor function Hyperreflexia Tremor, limb Upper motor neuron dysfunction Dystonia (any or unspecified) Tremor, action Mri brain abnormality Seizures Show more (+12) |
Spasticity
|