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