Carecchio, 2019: 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
|
ITA
|
7
|
44
|
n.a.
|
Dystonia, oromandibular
Global developmental delay Hyperreflexia Dystonia, laryngeal Dystonia, limb Short stature Dystonia, cervical Dysmorphic features Delayed speech and language development Dystonia, axial Dystonia (any or unspecified) Dystonia, arm Dystonia, generalized Dystonia, foot Anarthria Show more (+12) |
n.a.
|
|
Yes
|
♂
|
C
|
VEN
|
6
|
10
|
n.a.
|
Delayed speech and language development
Dystonia, limb Cognitive impairment Dysmorphic features Hyperreflexia Dystonia (any or unspecified) Short stature Dystonia, axial Dystonia, generalized Show more (+6) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
13
|
16
|
n.a.
|
n.a.
|
||
Yes
|
♀
|
C
|
ITA
|
6
|
18
|
n.a.
|
Hyperreflexia
Dystonia, generalized Dystonia, arm Dystonia (any or unspecified) Dystonia, limb Dystonia, leg Dystonia, cervical Dystonia, hand Dysphonia Dystonia, foot Dystonia, laryngeal Dystonia, axial Short stature Cognitive impairment Show more (+11) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
6
|
22
|
n.a.
|
Dystonia (any or unspecified)
Delayed speech and language development Dystonia, limb Dysmorphic features Short stature Dystonia, oromandibular Dystonia, craniofacial Dystonia, lower face Dystonia, axial Dystonia, foot Dystonia, generalized Show more (+8) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
5
|
35
|
n.a.
|
Dystonia, foot
Dystonia, axial Dysarthria Dystonia, oromandibular Dystonia, craniofacial Dystonia (any or unspecified) Dystonia, generalized Short stature Dystonia, arm Dystonia, limb Hyperreflexia Dystonia, laryngeal Dystonia, hand Dystonia, lower face Show more (+11) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
10
|
24
|
n.a.
|
Dystonia, lower face
Dystonia, axial Dystonia, generalized Dystonia, oromandibular Dystonia (any or unspecified) Dystonia, limb Dystonia, craniofacial Show more (+4) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
4
|
30
|
n.a.
|
Dystonia (any or unspecified)
Dystonia, cervical Dystonia, foot Myoclonus Dystonia, generalized Dystonia, axial Dystonia, limb Dysmorphic features Show more (+5) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
3
|
22
|
n.a.
|
Dystonia, generalized
Dystonia, foot Dystonia, limb Dysmorphic features Cognitive impairment Short stature Dystonia, axial Dystonia (any or unspecified) Show more (+5) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
4
|
25
|
n.a.
|
Dystonia, laryngeal
Dystonia, cervical Dystonia, axial Dystonia, generalized Dystonia, limb Dystonia, oromandibular Dystonia (any or unspecified) Dystonia, lower face Dystonia, leg Short stature Dystonia, craniofacial Hyperreflexia Dystonia, hand Dystonia, arm Dystonia, foot Show more (+12) |
n.a.
|