Please log on to access all functions of the MDSGene database.

Zech, 2017: Overview of all reported DYT-KMT2B patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
CZE
43
60
No
Dystonia (any or unspecified)
Dystonia, generalized
Tremor (any or unspecified)
Dystonia, laryngeal
Dysphonia
Dystonia, cervical
Dystonia, limb
Dystonia, axial
Dysarthria
Show more (+6)
Dystonia, cervical
Yes
C
CZE
17
21
No
Dystonia, axial
Dysarthria
Dystonia, generalized
Dysphonia
Dystonia, leg
Dystonia, cervical
Dystonia, laryngeal
Retrocollis
Dystonia (any or unspecified)
Dystonia, foot
Dystonia, limb
Show more (+8)
Dystonia, leg
Dystonia, foot
Yes
C
CZE
7
52
No
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, axial
Torticollis
Dystonia, generalized
Retrocollis
Dystonia, cervical
Dystonia, laryngeal
Dystonia, tongue
Tremor (any or unspecified)
Dystonia, foot
Dysarthria
Dystonia, leg
Show more (+10)
Dystonia, foot