Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
n.a.
|
n.a.
|
5
|
n.a.
|
No
|
Resting tremor
Lower limb dystonia Dystonia (any or unspecified) Tremor (any or unspecified) Dystonia, limb Gait difficulties Dystonia, segmental/multifocal Show more (+4) |
Dystonia, limb
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
27
|
n.a.
|
Hypotonia
Delayed motor development Residual motor signs Diurnal fluctuations Tremor (any or unspecified) Rigidity Developmental delay Dysarthria Sleep benefit Dystonia (any or unspecified) Tremor, intention Lower limb dystonia Spasticity Autonomic sign/sympt. Dystonia, limb Hyperreflexia Dystonia, segmental/multifocal Gait difficulties Postural instability Resting tremor Show more (+17) |
Hypotonia
|