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