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