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