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