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