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