| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
3
|
53
|
n.a.
|
Developmental regression
Gait difficulties Dystonia (any or unspecified) Spasticity Dystonia, axial Dystonia, generalized Lower limb dystonia Delayed motor development Developmental delay Dystonia, limb Residual motor signs Show more (+8) |
Dystonia (any or unspecified)
|
|
No
|
♂
|
n.a.
|
n.a.
|
3
|
42
|
n.a.
|
Cognitive impairment
Bradykinesia Gait difficulties Hypotonia Dystonia, axial Tremor (any or unspecified) Intellectual developmental disorder Spasticity Anxiety Developmental delay Dystonia, generalized Delayed motor development Dystonia, limb Dystonia (any or unspecified) Lower limb dystonia Developmental regression Hyperreflexia Show more (+14) |
Hypotonia
Dystonia (any or unspecified) |