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