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, foot
Anarthria Delayed speech and language development Hyperreflexia Short stature Dystonia, generalized Dystonia, arm Dystonia (any or unspecified) Dystonia, axial Dystonia, laryngeal Global developmental delay Dystonia, limb Dystonia, oromandibular Dysmorphic features Dystonia, cervical Show more (+12) |
n.a.
|
|
Yes
|
♂
|
C
|
VEN
|
6
|
10
|
n.a.
|
Hyperreflexia
Short stature Dystonia, axial Dysmorphic features Dystonia, generalized Delayed speech and language development Cognitive impairment 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.
|
Dystonia, axial
Dysphonia Cognitive impairment Dystonia, limb Dystonia, foot Dystonia, hand Hyperreflexia Dystonia, cervical Dystonia, laryngeal Short stature Dystonia, leg Dystonia, arm Dystonia, generalized Dystonia (any or unspecified) Show more (+11) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
6
|
22
|
n.a.
|
Dystonia, lower face
Delayed speech and language development Short stature Dystonia, oromandibular Dysmorphic features Dystonia, foot Dystonia, generalized Dystonia, axial Dystonia (any or unspecified) Dystonia, craniofacial Dystonia, limb Show more (+8) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
5
|
35
|
n.a.
|
Dystonia, lower face
Dystonia, laryngeal Dystonia, generalized Dystonia (any or unspecified) Dystonia, foot Dystonia, oromandibular Hyperreflexia Dysarthria Dystonia, axial Short stature Dystonia, arm Dystonia, craniofacial Dystonia, limb Dystonia, hand Show more (+11) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
10
|
24
|
n.a.
|
Dystonia, lower face
Dystonia, oromandibular Dystonia, limb Dystonia, craniofacial Dystonia, axial Dystonia (any or unspecified) Dystonia, generalized Show more (+4) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
4
|
30
|
n.a.
|
Dysmorphic features
Dystonia (any or unspecified) Dystonia, generalized Dystonia, foot Dystonia, cervical Dystonia, axial Myoclonus Dystonia, limb Show more (+5) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
3
|
22
|
n.a.
|
Dystonia, axial
Dysmorphic features Short stature Dystonia, limb Cognitive impairment Dystonia, foot Dystonia (any or unspecified) Dystonia, generalized Show more (+5) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
4
|
25
|
n.a.
|
Dystonia, oromandibular
Dystonia, craniofacial Dystonia, limb Dystonia, arm Dystonia, hand Dystonia, generalized Dystonia (any or unspecified) Dystonia, cervical Dystonia, leg Hyperreflexia Dystonia, axial Dystonia, laryngeal Dystonia, foot Dystonia, lower face Short stature Show more (+12) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
4
|
21
|
n.a.
|
Dystonia, axial
Dystonia, lower face Dysmorphic features Microcephaly Dystonia (any or unspecified) Anarthria Dystonia, oromandibular Dystonia, foot Dystonia, generalized Parkinsonism Dystonia, craniofacial Dystonia, laryngeal Short stature Dystonia, limb Show more (+11) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
4
|
44
|
n.a.
|
Dystonia, craniofacial
Dystonia, limb Dystonia, axial Dystonia (any or unspecified) Dystonia, laryngeal Dystonia, lower face Cognitive impairment Dystonia, oromandibular Dystonia, generalized Anarthria Dystonia, foot Dysmorphic features Show more (+9) |
n.a.
|
|
Yes
|
♂
|
C
|
ITA
|
7
|
17
|
n.a.
|
Dystonia, generalized
Dystonia, cervical Dystonia, arm Microcephaly Dysarthria Dystonia (any or unspecified) Hyperreflexia Dystonia, hand Dystonia,task-specific Dystonia, foot Dystonia, limb Dystonia, laryngeal Dysmorphic features Dystonia, axial Short stature Cognitive impairment Show more (+13) |
n.a.
|
|
Yes
|
♀
|
C
|
ITA
|
10
|
52
|
n.a.
|
Dystonia, craniofacial
Dystonia, laryngeal Cognitive impairment Dystonia (any or unspecified) Dystonia, generalized Dystonia, limb Dystonia, lower face Dysmorphic features Anarthria Dystonia, axial Dystonia, foot Dystonia, oromandibular Show more (+9) |
n.a.
|