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Table 1 Summary of the clinical and neuroradiological data

From: Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

Pat Diagnosis Consanguinity Age at onset Ethnic origin maximum CK Muscle histology Motor ability Muscle contractures Muscle hypertrophy IQ & cognitive performance Eyes MRI and/or ultrasound Other Reference
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
  1. p prenatal, n neonatal, m months, y years, aDG α-dystroglycan, aDG α-dystroglycan, Gl glaucoma, HCF head circumference, Lis lissencephaly, Ca cataracts, HC hydrocephalus, VP ventriculoperitoneal, MO microphthalmus, BS brainstem involvement, LV left ventricular, RD retinal detachment, CD cerebellar dysplasia, FS fractional shortening, Bu Buphthalmos, CC hypoplastic corpus callosum, FVC forced vital capacity, cStr convergent strabismus, EC encephalocele
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172