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