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