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