Meyer, 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
|
♂
|
n.a.
|
n.a.
|
4
|
14
|
n.a.
|
Dystonia, generalized
Dystonia, laryngeal Dysmorphic features Dystonia, limb Mild global developmental delay Dysphonia Cognitive impairment Dystonia, foot Global developmental delay Dystonia (any or unspecified) Dysarthria Dystonia, leg Show more (+9) |
Dystonia, foot
Dystonia, leg |
|
Yes
|
♂
|
n.a.
|
n.a.
|
6
|
18
|
n.a.
|
Dystonia, generalized
Dystonia, leg Dystonia, laryngeal Dysarthria Dysphonia Dysmorphic features Cognitive impairment Dystonia, limb Dystonia (any or unspecified) Short stature Show more (+7) |
Dystonia, leg
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
9
|
19
|
n.a.
|
Dystonia (any or unspecified)
Dysphonia Cognitive impairment Myoclonus Dysmorphic features Dystonia, leg Depression Dystonia, generalized Dystonia, hand Anxiety Dystonia, limb Dystonia, arm Dystonia, laryngeal Show more (+10) |
Dystonia, hand
Dystonia, arm |
|
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
20
|
n.a.
|
Microcephaly
Dysmorphic features Dystonia, foot Global developmental delay Motor delay Dystonia, generalized Delayed speech and language development Dystonia, limb Cognitive impairment Dystonia (any or unspecified) Dystonia, leg Show more (+8) |
Dystonia, foot
Dystonia, leg |
|
Yes
|
♀
|
n.a.
|
n.a.
|
6
|
27
|
n.a.
|
Dystonia, leg
Short stature Dystonia, tongue Dystonia, laryngeal Dysmorphic features Dystonia, generalized Dystonia (any or unspecified) Anarthria Dystonia, craniofacial Dysarthria Dystonia, foot Dystonia, limb Show more (+9) |
Dystonia, leg
Dystonia, foot |
|
Yes
|
♂
|
n.a.
|
n.a.
|
8
|
8
|
n.a.
|
Retrocollis
Dystonia, focal Dystonia, cervical Dystonia, jaw Dystonia (any or unspecified) Dystonia, craniofacial Dysmorphic features Dystonia, laryngeal Show more (+5) |
Dystonia, jaw
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
3
|
9
|
No
|
Dystonia, foot
Dysphonia Dysmorphic features Global developmental delay Cognitive impairment Dystonia (any or unspecified) Dystonia, generalized Dystonia, leg Dysarthria Delayed speech and language development Mild global developmental delay Dystonia, limb Dystonia, laryngeal Show more (+10) |
Dystonia, foot
Dystonia, leg |
|
Yes
|
♀
|
n.a.
|
n.a.
|
8
|
19
|
n.a.
|
Dysphonia
Torticollis Dystonia, cervical Dystonia, generalized Dysmorphic features Dystonia, leg Dystonia, laryngeal Dystonia (any or unspecified) Dystonia, limb Dystonia, foot Dysarthria Show more (+8) |
Dystonia, leg
Dystonia, foot |
|
Yes
|
♂
|
n.a.
|
n.a.
|
8
|
11
|
n.a.
|
Dystonia, leg
Dystonia (any or unspecified) Dysarthria Dysmorphic features Dystonia, arm Dystonia, laryngeal Dystonia, hand Dystonia, limb Motor delay Dysphonia Cognitive impairment Tremor (any or unspecified) Dystonia, generalized Show more (+10) |
Dystonia, arm
Dystonia, hand |
|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
17
|
n.a.
|
Short stature
Dystonia, laryngeal Dystonia, generalized Dysphonia Dysarthria Dysmorphic features Dystonia (any or unspecified) Dystonia, limb Dystonia, leg Dystonia, foot Show more (+7) |
Dystonia, leg
Dystonia, foot |