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