1
|
LGMD
|
+
|
2,5y
|
Turkish
|
×28
|
reduced aDG expression
|
walks alone (at 3y), difficulty in climbing stairs, slower running than peers, stopped walking at 18y
|
achilles
|
thighs, calves
|
IQ 65
| |
normal
| |
[8]
|
2
|
LGMD
|
not known
|
1y
|
Turkish
|
N/A
|
reduced aDG expression
|
walks alone (at 3y), difficulty in climbing stairs, slower running than peers, stopped walking at 14y
|
achillles, spine, neck
|
No
|
IQ 50
| |
normal
|
mild microcephaly
|
[8]
|
3
|
LGMD
|
+
|
3y
|
Turkish
|
×40
|
reduced aDG expression
|
walks alone (at 3y), difficulty in climbing stairs, slower running than peers, stopped walking at 13y
|
achilles
|
No
|
IQ 50
| |
normal
| |
[8]
|
4
|
LGMD
|
+
|
3y
|
Turkish
|
×20
|
reduced aDG expression
|
walks alone (at 3y), difficulty in climbing stairs, slower running than peers, walks with difficulty at 16y
|
achilles
|
calves
|
IQ 55
| |
not studied
| |
[8]
|
5
|
LGMD
|
+
|
2y
|
Turkish
|
×40
|
reduced aDG expression
|
walks alone (from 4y to 17y), difficulty in climbing stairs,stopped walking at 17y
|
achilles, spine, neck
|
thights,calves,trunk,arms
|
IQ 50
| |
normal
| |
[8]
|
6
|
LGMD
| |
18 m
|
German
|
×39
|
dystrophic pattern, aDG normal
|
delayed motor development, sitting at 12 m, walking 24 m; slight proximal limb weakness
|
achilles
|
calves
|
delayed speech development, first words at 2,5y; learning disability, dyskalkulie
|
normal
|
normal
|
microcephaly, LV dysfunction (FS 26%), mild restriction in spirometry (FVC 69%)
| |
7
|
LGMD
| |
18 m
|
German
|
×10
|
myopathic pattern, reduced aDG expression
|
Walking at 22 m; proximal limb weakness, general hypotonia; at 9 years: climbs stairs (4 floors), walks long distances, difficulties in motor coordination
|
No
|
calves
|
IQ 68; able to count to 20 and to read some words
| |
normal
|
secondary microcephaly, cardiac diagnostic normal; muscle pain 1x per month
|
[14]
|
8a
|
LGMD
|
not known
| |
Turkish
|
×22
| |
moderate motor impairment, LGMD-like clinical picture
| |
calves
|
moderate cognitive impairment
| |
normal
|
crampi on physical activities, elevated GOT/GPT/LDH, microcephaly
|
this study
|
8b
|
LGMD
| | |
Turkish
|
×28
|
dystrophic pattern, aDG not studied
|
moderate motor impairment, LGMD-like clinical picture
| |
calves
|
moderate cognitive impairment
| |
not studied
|
crampi on physical activities, elevated GOT/GPT/LDH, microcephaly
| |
9
|
LGMD
| |
1 m
|
German
|
×55
|
myopathic pattern
|
walks alone (from 3,5y to 29y), difficulty in climbing stairs, proximal limb weakness, Gowers sign with 4y; general hypotonia in infancy, delayed motor dev.
|
achilles, spine, neck, ellbows
|
calves, trunk, tongue
|
moderate cognitive impairment
|
normal
|
normal
|
secondary microcephaly, orofacial dysfunction
|
this study
|
10
|
LGMD
| |
3 m
|
German
|
×21
|
reduced aDG expression
|
no walking/standing at 22 m
| | |
no words at 20 m
| |
normal
|
microcephaly, hypersalivation
|
this study
|
11
|
LGMD
|
+
|
1y
|
Turkish
|
×10
|
no biopsy
|
walked at 4 y, slower than peers
|
No
|
calves
|
IQ 50
|
normal
|
normal
|
secondary microcephaly, HCF 51 cm at 7y
|
this study
|
12
|
LGMD
|
+
|
9 m
|
Turkish
|
×20
|
reduced aDG expression
|
walked at 3y, slow walker
|
No
|
calves
|
IQ 55
|
normal
|
normal
|
secondary microcephaly, HCF 42 cm at 1y
|
this study
|
13a
|
LGMD
|
+
|
1y
|
Turkish
|
×40
|
no biopsy
|
walked at 3y, stopped walking at 15y
|
achilles, spine, neck
|
calves, trunk, tongue
|
IQ 55
|
normal
|
normal
|
secondary microcephaly, HCF 49 cm at 6y
|
this study
|
13b
|
LGMD
|
+
|
1y
|
Turkish
|
×20
|
no biopsy
|
walked at 4 y, slower than peers
|
No
|
calves
|
IQ 55
|
normal
|
not studied
|
secondary microcephaly, HCF 48,5 cm at 12y
| |
14
|
LGMD
|
not known
|
1y
|
Turkish
|
×10
|
no biopsy
|
walked at 1y, slow walker
|
No
|
No
|
IQ 55
|
normal
|
normal
| |
this study
|
15
|
LGMD
|
+
|
18 m
|
Turkish
|
×25
|
reduced aDG expression
|
walked at 5, stopped at 13 y
|
achilles, spine, neck
|
calves
|
IQ 50
|
normal
|
normal
|
secondary microcephaly, HCF 51 cm at 12y
|
this study
|
16
|
LGMD
|
+
|
1y
|
Turkish
|
×25
|
no biopsy
|
walked at 4 y, slower than peers
|
No
|
calves
|
IQ 50
|
normal
|
not studied
|
secondary microcephaly, HCF 47,5 cm at 4y
|
this study
|
17
|
LGMD
|
not known
|
1y
|
Turkish
|
×20
|
reduced aDG expression
|
walked at 6 y, slower than peers
|
achilles
|
calves
|
IQ 55
|
normal
|
normal
|
secondary microcephaly, HCF 48,5 cm at 8y
|
this study
|
18
|
WWS
| |
n
|
Gipsy
|
×25
| |
neonatal: severly hypotonic, adynamic; no psychomotor development
| | | |
Bu; Gl; dense opacities of anterior parts
|
HC; Lis; BS; CD; CC; fused frontal lobes/ventricles/basal ganglia
|
cryptorchism, kidney cysts, epileptic seizures
|
[15]
|
19
|
WWS
|
+
|
p
|
Turkish
|
×10
|
dystrophic pattern, merosin normal
|
prenatal: HC, polyhydramnios, red. Fetal movemets: neonatal: gen. Weakness& hypotonia&hyporeflexia; markly delayed development, no sitting
|
No
|
No
| |
Ca; RD
|
HC; Lis; BS; CD
|
tube feeding as neonate, VP shunting at 10d. Myoclonic epilepsy, drug resistant
|
[11]
|
20
|
WWS
|
+
|
p
|
Indonesian
| | |
died at 4 days of age in Indonesia
| | | |
CA
|
HC
|
previous pregnancy with massive HC
|
this study
|
21a
|
WWS
| |
p
|
German
|
×30
| |
neonatal: gen. Weakness&hypotonia, reduced limb movements, could not lift up legs from underground
| | | |
CA, MO; RD
|
HC; Lis; BS; CD; CC; occipital EC
|
nasogastric tube feeding as neonate; tonic and spasm-like epileptic seizures starting at 4 weeks of age
|
this study
|
21b
|
WWS
| |
p
| | | | | | | | |
fetal ultrasound: HC, occipital EC
|
termination of pregnancy
| |
21c
|
WWS
| |
p
| | | | | | | | |
fetal ultrasound: exencephaly
|
termination of pregnancy
| |
22a
|
WWS
| |
p
|
German
| |
Fetus of 18 weeks GA: premature muscle structure, absent aDG
| | | | | |
fetal ultrasound: HC
|
termination of pregnancy
|
this study
|
22b
|
WWS
| |
p
| | | | | | | | |
fetal ultrasound: HC
|
termination of pregnancy
| |
22c
|
WWS
| |
p
| | | | | | | | |
fetal ultrasound: HC
|
termination of pregnancy
| |
23a
|
WWS
| |
p
|
German
| | | | | | | |
fetal ultrasound: HC
|
termination of pregnancy
|
this study
|
23b
|
WWS
| |
p
| | | | | | | | |
fetal ultrasound: HC
|
termination of pregnancy
| |
23c
|
WWS
| |
p
| | | | | | | | |
fetal ultrasound: HC
|
termination of pregnancy
| |
24
|
WWS
|
+
|
p
|
Turkish
|
×44
|
no biopsy
|
neonatal: gen. Weakness&hypotonia, reduced spontanous movements, could not lift up legs from underground
|
No
|
No
| |
bilateral Bu, Gl, Ca; unilateral RD
|
HC; Lis; BS; CD; CC
|
unilateral clump feet; tube feeding as neonate; VP shunting with 2 months due to progressive HC; cryptorchism
|
this study
|
25
|
WWS
|
+
|
p
|
Turkish
|
×29
| |
at 22 m severe muscular hypotonia, red. Spontaneous movements, no head control, no grasping
|
No
|
No
|
at 22 m no eye contact, no words, no reaction to external stimulation
|
MO; secondary Gl
|
fetal ultrasound: HC; reduced gyration; CD; EC; postnatal ultrasound: Lis; HC; CD; EC
|
microcephaly at birth; tube feeding as neonate; probable defective hearing; VP shunting with 2 months due to progressive HC; spasm-like epileptic seizures, therapy with valproic acid
|
this study
|
26
|
MEB-like
| |
n
|
African
|
×26
|
reduced aDG expression
|
neonatal: muscular hypotonie with reduced limb movements; at 4 y no walking, able to turn around, to hold head when sitting, grasp things
|
achilles
| |
global developmental delay (cognition, speech, motor)
|
cStr
|
HC; BS; CD
|
VP shunting; swallowing problems
|
this study
|
27
|
WWS
| |
p
|
German
| | | | | | | |
fetal MRI & ultrasound: HC, BS, CD
|
termination of pregnancy
|
this study
|