| 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.
|
Dystonia (any or unspecified)
Lower limb dystonia Spasticity Dystonia, limb Dystonia, axial Gait difficulties Developmental regression Developmental delay Delayed motor development Residual motor signs Dystonia, generalized Show more (+8) |
Dystonia (any or unspecified)
|
|
No
|
♂
|
n.a.
|
n.a.
|
3
|
42
|
n.a.
|
Cognitive impairment
Delayed motor development Anxiety Intellectual developmental disorder Hyperreflexia Bradykinesia Gait difficulties Spasticity Developmental regression Dystonia, limb Dystonia (any or unspecified) Developmental delay Dystonia, axial Tremor (any or unspecified) Dystonia, generalized Hypotonia Lower limb dystonia Show more (+14) |
Dystonia (any or unspecified)
Hypotonia |