| 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
|
Gait difficulties
Dystonia, segmental/multifocal Resting tremor Lower limb dystonia Tremor (any or unspecified) Dystonia, limb Dystonia (any or unspecified) Show more (+4) |
Dystonia, limb
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
27
|
n.a.
|
Lower limb dystonia
Rigidity Tremor (any or unspecified) Sleep benefit Tremor, intention Dystonia (any or unspecified) Developmental delay Dysarthria Resting tremor Postural instability Hyperreflexia Dystonia, segmental/multifocal Delayed motor development Autonomic sign/sympt. Gait difficulties Spasticity Dystonia, limb Hypotonia Diurnal fluctuations Residual motor signs Show more (+17) |
Hypotonia
|