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