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