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