Phenotypes for disease #00073 (MDDGA3;MEB;WWS (dystrophy-dystroglycanopathy, muscular, (congenital with brain and eye anomalies), type A3 (Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB))), OMIM:253280)

23 entries on 1 page. Showing entries 1 - 23.
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0000302363 - Familial, autosomal recessive 7y dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - - - creatine kinase units/l (normal values in the range of 24-240): 1000; biopsy: yes - LOVD 00410258
0000302364 - Familial, autosomal recessive 12y dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - - - creatine kinase units/l (normal values in the range of 24-240): 2365; biopsy: not done - LOVD 00410259
0000302365 muscle-eye-brain disease or severe Fukuyama congenital muscular dystrophy Familial, autosomal recessive 8y - - - - creatine kinase units/l (normal values in the range of 24-240): 1844; biopsy: not done - LOVD 00410260
0000302366 muscle-eye-brain disease or severe Fukuyama congenital muscular dystrophy Familial, autosomal recessive 7y - - - - creatine kinase units/l (normal values in the range of 24-240): 852; biopsy: not done - LOVD 00410261
0000302368 - Familial, autosomal recessive 09y dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - - - creatine kinase units/l (normal values in the range of 24-240): 2327; biopsy: not done - LOVD 00410263
0000302369 - Familial, autosomal recessive 00y20m dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - - - creatine kinase units/l (normal values in the range of 24-240): >3000; biopsy: yes - LOVD 00410264
0000302370 - Familial, autosomal recessive 17y dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - - - creatine kinase units/l (normal values in the range of 24-240): nd; biopsy: yes - LOVD 00410265
0000302371 - Familial, autosomal recessive 15m dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A4 - - - creatine kinase units/l (normal values in the range of 24-240): 2697; biopsy: not done - LOVD 00410266
0000302372 - Familial, autosomal recessive 00y03m dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - - - creatine kinase units/l (normal values in the range of 24-240): 1798; biopsy: not done - LOVD 00410267
0000302373 - Familial, autosomal recessive 14y dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - - - creatine kinase units/l (normal values in the range of 24-240): 724; biopsy: not done - LOVD 00410268
0000302374 - Familial, autosomal recessive 02y dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - - - creatine kinase units/l (normal values in the range of 24-240): 1000; biopsy: not done - LOVD 00410269
0000302375 muscle-eye-brain disease or Fukuyama congenital muscular dystrophy Familial, autosomal recessive - - - - - creatine kinase units/l (normal values in the range of 24-240): 1000; biopsy: yes - LOVD 00410270
0000302376 - Familial, autosomal recessive - dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - - - creatine kinase units/l (normal values in the range of 24-240): nd; biopsy: not done - LOVD 00410271
0000302377 - Familial, autosomal recessive - dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - - - creatine kinase units/l (normal values in the range of 24-240): nd; biopsy: yes - LOVD 00410272
0000302378 - Familial, autosomal recessive - dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - - - creatine kinase units/l (normal values in the range of 24-240): nd; biopsy: not done - LOVD 00410273
0000302379 - Familial, autosomal recessive 05y dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - - - creatine kinase units/l (normal values in the range of 24-240): 1953; biopsy: yes - LOVD 00410274
0000302380 - Familial, autosomal recessive 16y dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - - - creatine kinase units/l (normal values in the range of 24-240): 9311; biopsy: yes - LOVD 00410275
0000302381 - Familial, autosomal recessive 21y dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - - - creatine kinase units/l (normal values in the range of 24-240): 12000; biopsy: yes - LOVD 00410276
0000302382 - Familial, autosomal recessive 12d dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - 0d - suspected retinal detachment in the right eye noted soon after birth; endoscopic third ventriculostomy at 1 day of life for hydrocephalus after magnetic resonance imaging revealed severe brain and brainstem malformation with an absent corpus callosum, cortical gyral thickening, cerebellar vermian hypoplasia, and markedly enlarged lateral and third ventricles; unremarkable anterior segment both eyes; fundus right eye: retinal detachment that obscured the optic nerve and fovea, but with a bullous elevation in a nearby macular area and superior elevated fibrosis - avascular retina with multiple lacunae and full-thickness holes; left eye: moderate optic nerve hypoplasia, an indistinct but attached fovea, and an anomalous distribution of vessels with very reduced caliber to vessels coursing superiorly, which appeared to terminate in the equatorial zone; periphery of the left eye featureless with poor pigmentation and an impressive extent of visible choroidal vasculature; fluorescein angiography right eye: leakage from the fibrosis, indicative of extraretinal fibrovascular proliferation, left eye: hypoplastic retina with prominent choroidal flush and anomalous vasculature that terminated in the equatorial zone; prophylactic laser treatment performed in each eye in areas of nonperfusion, and pars plana vitrectomy, lensectomy, and silicone oil placement were performed in the right eye - LOVD 00410277
0000302400 - Familial, autosomal recessive >40y dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - - - institutional care since childhood; magnetic resonance: cobble-stone malformation of the cortex, a thin corpus callosum, lower vermis hypoplasia, brain stem hypoplasia, absent septum pellucidum and ventriculomegaly; 1y: serum creatine kinase: 141 U/L (upper normal 220 U/L); patient profoundly intellectually disabled and unable to communicate, but generally content and peaceful when they are healthy; enjoy being outdoors, being stroked, and holding vibrating sensory toys; small head circumference of about 53 cm (-2SD), ~ 160 cm tall (-1SD), weight fluctuating between 60 and 65 kg; drawn to lack of eye contact and little reaction to their environment apart from laughter provoked by sudden loud noises; dilated pupils and a mature cataract in one eye; ocular examination under anesthesia in: subluxation of the lenses in the eye without a cataract, initially raising suspicions of a tumor and iris rubeosis; mouth open revealing excessively worn teeth due to bruxism; patient holds her hands in her lap; contractures in the upper limb joints (knuckles); retained ability to move their limbs and grasp objects. At the age of 20 ability to stand holding a frame (but no longer); clubfoot; now ability to roll from lying on the back onto the side, and when assisted to a sitting position - maintaining this position for some time; neck support in their wheelchair or stroller due to sporadic violent head swings; repeated bowel obstruction; eats pureed food with a spoon but requires assistance with drinking; bowel function is ensured with medication; antiepileptic monotherapy: levetiracetam; no epileptic seizure for years; electroencaphalography registration of wakefulness: a high frequency of high-amplitude discharges located in the frontal parts in addition to generalized slowing; periods of hypothermia (body temperature 31-34degC) with or without any clear infection or without other causes of hypothermia, such as exposure to cold, hypothyroidism, malnutrition or neuroleptic medication - mainly sleeping during these periods; irregular sleep patterns, and low systolic (76-92 mmHg) and diastolic blood pressure (59-61 mmHg). Hormone treatment has been used to end menstruation - LOVD 00410295
0000302401 - Familial, autosomal recessive >40y dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - - - institutional care since childhood; magnetic resonance: cobble-stone malformation of the cortex, a thin corpus callosum, lower vermis hypoplasia, brain stem hypoplasia, absent septum pellucidum and ventriculomegaly; 5y: serum creatine kinase: 548 U/L (upper normal 220 U/L); patient profoundly intellectually disabled and unable to communicate, but generally content and peaceful when they are healthy; enjoy being outdoors, being stroked, and holding vibrating sensory toys; small head circumference of about 53 cm (-2SD), ~ 160 cm tall (-1SD), weight fluctuating between 60 and 65 kg; drawn to lack of eye contact and little reaction to their environment apart from laughter provoked by sudden loud noises; dilated pupils and a mature cataract in one eye; mouth open revealing excessively worn teeth due to bruxism; patient almost always cups her chin with her upper limbs, touching her face with her hands; contractures in the upper limb joints (elbow), retained ability to move their limbs and grasp objects. At the age of 20 ability to stand holding a frame (but no longer); clubfoot; now ability to roll from lying on the back onto the side, and when assisted to a sitting position - maintaining this position for some time; neck support in their wheelchair or stroller due to sporadic violent head swings; repeated bowel obstruction; fitted with a gastrostomy tube; bowel function is ensured with medication; antiepileptic monotherapy: lamotrigine - on average weekly short tonic-clonic seizures accompanied by shouting; electroencaphalography during slow-wave-sleep: continuous slow spike-sharp-polyspike-slow wave discharge located in the right temporal lobe, which at times becomes more generalized, during times of wakefulness, irritative activity in the right temporal lobe is evidentperiods of hypothermia (body temperature 31-34degC) with or without any clear infection or without other causes of hypothermia, such as exposure to cold, hypothyroidism, malnutrition or neuroleptic medication - mainly sleeping during these periods. of hypothermia, the women mainly sleep; irregular sleep patterns, and low systolic (76-92 mmHg) and diastolic blood pressure (59-61 mmHg). Hormone treatment has been used to end menstruation - LOVD 00410296
0000302402 - Familial, autosomal recessive 6y dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - 0m - delivery: scheduled Cesarean section due to high myopia; birth weight: 3650 g, height: 52 cm; hypotonia at birth; motor milestones: delayed: held head by 7 months, rolled from back to side at 8 months, put into sitting position by 24 months, walked with support at 2,5 years, walked independently at 4 years; speech development: delayed: 6y non-verbal. 8m: hospitalized, brain computed tomography: signs of leukodystrophy and cortical atrophy of frontal, parietal and temporal areas; 13m: brain magnetic resonance imaging: signs of leukodystrophy, lissencephaly of left occipital lobe, polymicrogyria of both frontal lobes, secondary ventriculomegaly, brain atrophic changes with enlargement of sub-arachnoid spaces; biochemical analysis: creatine kinase: 2024 U/L (normal range 25-140 U/L), alanine aminotransferase (ALT): 59 U/L (upper limit of normal 40 U/L), aspartate aminotransferase (AST): 82 U/L (upper limit of normal 42 U/L), lactate dehydrogenase (LDH): 318 U/L (upper limit of normal 225 U/L); electromyography: signs of primary muscle lesion. 6y: weight 21 kg, height 113 cm, head circumference 53 cm; convergent strabismus, insufficiency of convergence and accommodation; hypotonia, distal more than proximal, trunk ataxia, walking on the toes with an atactic component, flat valgus foot reacted; able to maintain short-term eye contact; speech is misunderstood; face - hypomimic; behavioral features: periodic fading with subsequent rapidity of breathing and stereotyped swings of hands, orthopedic examination revealed thoracic hypokyphosis, lumbar hyperlordosis, double-sided coxa valga, pathological antetorsion on the right, equinox flat valgus feet; limb movements were not restricted except for restriction of back flexion in the ankles; ophthalmological examination: congenital high myopia, partial atrophy of an optic nerve and retinal atrophy in both eyes; magnetic resonance imaging: hypoplasia of temporal lobes and opercular areas from two sides, hypoplasia of caudal parts of the cerebellum worm with the expansion of external subarachnoid spaces of the cerebral hemispheres (more in the temporal areas), expansion of retrocerebellar cistern, symmetrical expansion of the ventricular system, pachygyria-polymicrogyria of cerebral hemispheres with preservation of the occipital lobe; cerebellum: multiple small cysts, hypoplasia of the corpus callosum and pons with the extension of the anterior and covering cisterns are revealed; biochemical analysis: CK - 2253 U/L , ALT - 70,4 U/L, AST - 62 U/L, LDH - 503 U/L; other blood and urine indicators: normal; level of CK was increased 10-15 times and for two years decreased from 3126 (3 years 4 months) to 1986 (at 5 years 2 months). creatine kinase-muscle/brain: 61.1 (upper limit of normal 25 U/L); electroneuromyography: signs of primary muscle; motor unit potentials (MUP) were short in duration and low in amplitude. The number of polyphasic MUP has increased. Spontaneous activity in each test muscle- electroencephalography - no epileptiform activity; electrocardiogram: vertical position of the electrical heart axis, mild bradycardia and arrhythmia, nonspecific intraventricular block, early repolarization syndrome of the ventricles; karyotype: normal; tandem mass spectrometry: no changes in the plasma level of amino acids and acylcarnitines - LOVD 00410297
0000302403 - Familial, autosomal recessive 3y dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 - 3m - 9m: progressively increasing esotropia, initially diagnosed at 3 months of age, developmental delay; rapid and unsteady eye movements and torticollis; abnormal fetal magnetic resonance imaging: cerebral ventriculomegaly, cyanosis at birth, and global developmental delay, with central weakness and hypotonia; visual acuity (assessed by preferential looking testing) right, left eye: 20/130, 20/270; pupils: 3.5 mm and minimally reactive to light; cycloplegic refraction: -2.50 sphere bothe eyes; anterior segment: unremarkable; sensorimotor evaluation: pendular, horizontal nystagmus with occasional jerk-like movements, full ductions and versions, and 45D-50D of esotropia at near; fundus: pale and hypoplastic-appearing optic nerves, with anomalous vascular loops; retina had a dysplastic appearance, and the retinal vasculature (and presumed fovea) appeared to have been dragged inferiorly; vertical deviation was thus recognized to be a large vertical angle kappa � no focus of traction to explain the apparent retinal dragging; however, the peripheral retina was avascular in both eyes; laboratory evaluation: elevated creatine kinase at 3213 U/L; magnetic resonance imaging: low-volume cerebral white matter with a diffusely abnormal hyperintense T2 signal, polymicrogyria of the frontal lobes and perisylvian regions, cerebellar dysgenesis, pontine hypoplasia, and ventriculomegaly dystrophy; esotropia was treated with an injection of 5 units of botulinum toxin (onabotulinumtoxin A to each medial rectus muscle during the examination under anesthesia; presumed amblyopia was treated with 4 hours of daily patching of the right eye. Follow-up at 13m: visual acuity unchanged, persistent right eye fixation preference, myopia increased to -3.75 D sphere in both eyes; persistent V-pattern esotropia of 40D at near (Krimsky) was managed with a repeat injection of 5 units of botulinum toxin into both medial rectus muscles for the esotropia and additional 5 units into both inferior oblique muscles for the V pattern; minimal residual esotropia - LOVD 00410298
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