Table 1 Summary of the clinical and neuroradiological data

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