| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
2
|
No
|
Dystonia, parkinsonism or dyskinesia
Dystonia (any or unspecified) Dystonia, limb Dystonia, cervical Hyperreflexia Dystonia, generalized Muscular hypotonia Ptosis Rigidity Dystonia, arm Motor delay Developmental delay/intellectual disability Dyskinesia Dystonia, oromandibular Dystonic crisis Dystonia, hand Dystonia, leg Dystonia, foot Anarthria Dyskinesia, orolingual Show more (+17) |
Dystonia, generalized
Muscular hypotonia |
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
4
|
No
|
Dystonia, leg
Dystonia, oromandibular Dystonia, parkinsonism or dyskinesia Dystonia, limb Dystonia, generalized Dystonia, cervical Anarthria Dyskinesia Developmental delay/intellectual disability Tremor (any or unspecified) Dystonia, axial Muscular hypotonia Dystonia, hand Motor delay Dystonia (any or unspecified) Dystonic crisis Rigidity Dystonia, foot Dyskinesia, orolingual Dystonia, arm Show more (+17) |
Dystonia, generalized
Muscular hypotonia |