Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
ROU
|
7
|
19
|
n.a.
|
Dysphagia
Abnormal central motor function Abnormality of skeletal morphology Delayed gross motor development Motor delay Dysarthria NMS parkinsonism Choreoathetosis Dystonia, axial Dystonia, generalized Dystonia (any or unspecified) Developmental regression Dystonia, craniofacial Cognitive impairment Short stature Show more (+12) |
Developmental regression
|
|
No
|
♂
|
C
|
ROU
|
3
|
15
|
n.a.
|
Dystonia (any or unspecified)
Myoclonus Abnormal central motor function Dystonia, axial Dysphagia Delayed gross motor development Abnormality of skeletal morphology Dysarthria Delayed speech and language development Motor delay Dystonia, generalized NMS parkinsonism Dystonia, craniofacial Developmental regression Choreoathetosis Show more (+12) |
Dystonia, axial
|
|
Yes
|
♀
|
O
|
HND
|
2
|
17
|
No
|
Spasticity
Delayed speech and language development Short stature Delayed fine motor development Dystonia, axial Motor delay Abnormal central motor function Dystonia (any or unspecified) Myoclonus Dystonia, craniofacial Choreoathetosis Dystonia, generalized Dysarthria Dystonia, limb Developmental regression Hyperreflexia Delayed gross motor development Show more (+14) |
Dystonia, axial
Dysarthria |
|
Yes
|
♀
|
C
|
FRA
|
16
|
24
|
No
|
Abnormality of skeletal morphology
Dysarthria Bradykinesia Dystonia, generalized Dystonia, craniofacial Abnormal central motor function Rigidity Dystonia (any or unspecified) Parkinsonism Dystonia, oromandibular Dystonia, hand Mri brain abnormality Dystonia, limb Short stature Show more (+11) |
Dystonia, hand
|