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