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At least 181 records · Page 10Linked to original sources
PubMed2005

[Muscle-eye-brain disease. Presentation of one case with genetic study].

INTRODUCTION: The objective [corrected] is to present a case of muscle-eye-brain (MEB) disease with genetic study. MATERIAL AND METHODS: We studied an affected male from the age of 7 months to 21 years. During this time, clinical, analytical, neurophysiological (EEG, EMG, visual evoked potential [VEP], electroretinogram [ERG]), image (CT, MR), cerebral biopsy and genetic studies were performed. RESULTS: Severe visual acuity impairment with optic atrophy from the first months of life, abnormal VEP and ERG, CT and MR showing < > image of the cerebral cortex and subcortical white matter with myelinating changes; the histologic study of the cerebral biopsy sample showed hypomyelinating lesions and migration changes. The patient is alive at 21 years of age. The genetic study confirmed the presence of two recessive mutations, c.1274G>C and c.1895+1_4delGTGA, within the POMGnT1 gene. CONCLUSIONS: The patient shows typical clinical, neurophysiological, histological and genetic MEB features.

Adult↗
PubMedDate not supplied

[Congenital muscular dystrophies: muscle-eye-brain disease].

Three rare autosomal recessive disorders share the combination of congenital muscular dystrophy and brain malformations including a neuronal migration defect: muscle-eye-brain disease (MEB), Walker-Warburg syndrome (WWS), and Fukuyama congenital muscular dystrophy (FCMD). In addition, ocular abnormalities are a constant feature in MEB and WWS. We report on two brothers with MEB. The clinical and radiological characteristics are demonstrated.

Brain↗
PubMed2002

A surgical alternative for dissociated vertical deviation based on new pathologic concepts: weakening all four oblique eye muscles. Outcome and results in 9 cases.

PURPOSE: To test new and recent theories on the etiology of Dissociated Vertical Deviation (DVD) with an appropriate new alternative surgical technique. METHOD: Nine patients were prospectively selected. The surgical technique used was simultaneous and symmetrical weakening of all 4 oblique eye muscles in order to reduce bilateral cyclotorsion. For analysis, "Statistical Significance" level used was p<0.05. RESULTS: Mean preoperative hypertropia was 17.9 prism diopters (pd) for the right eyes (RE) and 17.7 pd for the left eyes (LE). Mean post-surgical deviation achieved was 6.44 pd for the REs and 5.78 pd for the LEs. Statistical analysis (Wilcoxon's Test) showed a p<0.02 for both eyes. In all cases, a symmetrical correction was also obtained. CONCLUSIONS: The hypothesis that the manifest hypertropia seen in patients with DVD is secondary to cyclotorsion, mediated primarily by the oblique muscles, was validated by improving (reducing) the DVD by performing bilateral and symmetrical weakening of all four oblique extraocular muscles.

Child↗
PubMed2007

Prenatal diagnosis of muscle-eye-brain disease.

OBJECTIVES: To present a family in which it was possible to perform prenatal diagnosis for the recessively inherited muscle-eye-brain disease (MEB) using linkage analysis. METHODS: Linkage analysis and direct sequencing of the POMGNT1 gene were carried out in a Turkish MEB family with one affected individual. Fetal DNA was obtained from an ongoing pregnancy by chorionic villus sampling (CVS). RESULTS: Both linkage analysis of the POMGNT1/1p32-p34 region and direct sequencing for the novel familial mutation (R605H) demonstrated that the fetus did not have MEB. CONCLUSION: We report the first case of prenatal diagnosis in MEB by molecular genetic analysis.

Adolescent↗
PubMed1996

Fibrotic eye muscles, Axenfeld anomaly, flat face, and mild developmental retardation: a new example of the Chitty syndrome.

We have studied a girl with fibrotic extrinsic eye muscles, Axenfeld anomaly, unusual facial appearance, mild hydrocephaly, and neurodevelopmental delay. Her condition is similar to the one described recently in members of a single family by Chitty et al. [1991, Am J Med Genet 40:417-420]. We suggest that she represents a second example of what may be called the Chitty syndrome.

Abnormalities, Multiple↗
PubMed1991

Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type.

Congenital muscular dystrophy (CMD) associated with cerebro-ocular dysplasia named muscle-eye-brain disease (MEB-D) is described in two sisters. Progressive hypotonia, mental retardation and severe visual failure appeared immediately after birth. Pathological examination demonstrated muscular dystrophy, hydrocephalus, type II lissencephaly and defective eye development of foetal origin. The great similarity of the clinical and neuropathological picture of both sisters is in agreement with an autosomal recessive inheritance. Neuropathological distinction between Fukuyama-CMD and MEB-D is a more severe and earlier cerebral developmental defect and the association with ocular dysplasia in MEB-D.

Brain↗
PubMed2001

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.

BACKGROUND: Three rare autosomal recessive disorders share the combination of congenital muscular dystrophy and brain malformations including a neuronal migration defect: muscle-eye-brain disease (MEB), Walker-Warburg syndrome (WWS), and Fukuyama congenital muscular dystrophy (FCMD). In addition, ocular abnormalities are a constant feature in MEB and WWS. Lack of consistent ocular abnormalities in FCMD has allowed a clear clinical demarcation of this syndrome, whereas the phenotypic distinction between MEB and WWS has remained controversial. The MEB gene is located on chromosome 1p32-p34. OBJECTIVES: To establish distinguishing diagnostic criteria for MEB and WWS and to determine whether MEB and WWS are allelic disorders. METHODS: The authors undertook clinical characterization followed by linkage analysis in 19 MEB/WWS families with 29 affected individuals. With use of clinical diagnostic criteria based on Finnish patients with MEB, each patient was categorized as having either MEB or WWS. A linkage and haplotype analysis using 10 markers spanning the MEB locus was performed on the entire family resource. RESULTS: Patients in 11 families were classified as having MEB and in 8 families as WWS. Strong evidence in favor of genetic heterogeneity was obtained in the 19 families. There was evidence for linkage to 1p32-p34 in all but 1 of the 11 pedigrees segregating the MEB phenotype. In contrast, linkage to the MEB locus was excluded in seven of eight of the WWS families. CONCLUSION: These results allow the classification of MEB and WWS as distinct disorders on both clinical and genetic grounds and provide a basis for the mapping of the WWS gene(s).

Adolescent↗
PubMed1980

[Electromyography of eye muscles in myasthenia gravis].

The importance of the combination of electromyographic examination and the Tensilon test in the diagnosis of Myasthenia gravis pseudoparalytica of the eye muscles is discussed. After intravenous injection of Tensilon in ocular myasthenia, an activity increase is found in the electromyogram, even when the motor effect on the diseased muscle is not recognisable. Myopathies and peripheral neurogenic paresis do not respond to Tensilon.

Electromyography↗
PubMed1978

Progressive supranuclear palsy: electomyographic examinations of eye muscles.

Electromyographic examination of vertical and lateral extraocular muscles was carried out in five patients suffering from progressive supranuclear palsy, and incapable of performing voluntary vertical eye movements. No evidence of a lower motor neurone lesion or paradoxical innervation of eye muscles was noted. Reciprocal inhibiton of antagonist vertical muscles though present in oculocephalic (doll's head) stimulation, was incomplete on attempted voluntary movement. This factor is held to be the probable immediate cause of the vertical gaze palsy.

Action Potentials↗
PubMedDate not supplied

Ultrasound measurement of the horizontal external eye muscles in patients with thyroid disease. Is orbital involvement associated with thyroid autoantibodies?

PURPOSE: To describe ophthalmic findings with emphasis on exophthalmometry and ultrasonic assessment of extraocular eye muscle diameter in a consecutive group of females with Graves' disease (GD), compared with healthy controls and patients with other thyroid diseases. We also investigated the relationship with biochemical markers of thyroid autoimmunity such as TSH receptor antibodies (TRAb) and anti-thyroid peroxidase antibodies (anti-TPO). METHODS: Seventy adult women (age 26-74 years) with various types of thyroid disease consecutively entered the study at a tertiary referral center for thyroid-associated ophthalmopathy (TAO). Twenty-three had long-standing GD with TAO. Clinically, TAO was mainly absent in 22 with newly diagnosed GD and in seven with relapse of GD. Nine with Hashimoto's thyrolditis and nine with multinodular goiter were included for comparison and 18 healthy females served as controls. A full ophthalmic status included B-scan ultrasonic assessment of the four horizontal rectus muscle thicknesses, and a clinical NOSPECS score was attempted for each. RESULTS AND CONCLUSIONS: Besides higher NOSPECS scores, the TAO subgroup had higher exophthalmometry and muscle thickness. The GD groups without significant TAO also scored higher in these ratings compared to controls. Hertel recordings, NOSPECS and muscle thicknesses were all correlated in GD but showed no correlation to thyroid antibodies (TRAb and anti-TPO). Thus, the muscle thickness did not correlate with thyroid autoimmune activity. Nevertheless, we found extraocular muscle assessment useful since a) thicker muscles were usually found in patients with GD, with or without evidence of TAO, and b) other space-occupying orbital lesions could be excluded, thereby reducing the need for the more elaborate imaging techniques (CT, MRI, etc.).

Adult↗
PubMed2005

Palisade endings in extraocular eye muscles revealed by SNAP-25 immunoreactivity.

Palisade endings form a cuff of nerve terminals around the tip of muscle fibres. They are found only in extraocular muscles, but no definite evidence for their role in eye movements has been established. Palisade endings have been reported in all species so far investigated except the rat. In this study we demonstrate that antibodies against SNAP-25, the synaptosomal associated protein of 25 kDa, reliably visualize the complete motor, sensory and autonomic innervation of the extraocular muscles in human, monkey and rat. The SNAP-25 antibody can be combined with other immunofluorescence procedures, and is used here to study properties of palisade endings. With SNAP-25 immunolabelling putative palisade endings are identified in the rat for the first time. They are not well branched, but fulfil several criteria of palisade endings, being associated with non-twitch fibres as shown by double labelling with 'myosin heavy chain slow-twitch' antibodies. The putative palisade endings of the rat lack alpha-bungarotoxin binding, which implies that these synapses are sensory. If palisade endings are sensory then they could function as an eye muscle proprioceptor. They seem to be a general feature of all vertebrate eye muscles, unlike the other two extraocular proprioceptors, muscle spindles and Golgi tendon organs, the presence of which varies widely between species.

Animals↗
PubMed1996

Antibody-dependent cell-mediated cytotoxicity against orbital target cells in thyroid-associated ophthalmopathy and related disorders; close relationship between serum cytotoxic antibodies and parameters of eye muscle dysfunction.

We have carried out tests for antibody-dependent cell-mediated cytotoxicity (ADCC) against extra ocular muscle (EOM), Müller's muscle, orbital fibroblasts and skeletal muscle in patients with thyroid-associated ophthalmopathy (TAO) and related eye disorders. Cytotoxicity was measured as lactate dehydrogenase (LDH) release and results expressed as % cytotoxicity. Tests were positive, with EOM cells, in 65% of patients with TAO, 75% with ocular myopathy, a variant of TAO in which periorbital inflammation is minimal, 50% with euthyroid Graves' disease defined as ophthalmopathy associated with subclinical thyroiditis and in 50% of patients with stable lid lag and retraction but no other signs of progressive ophthalmopathy, but in only 13% of patients with Graves' hyperthyroidism without ophthalmopathy, 10% with Hashimoto's thyroiditis and 14% of patients with other thyroid disorders. Tests were positive, with Müller's muscle cells, in 40% of patients with TAO, 25% with ocular myopathy, 40% with euthyroid Graves' disease, 44% with lid lag, 19% with Graves'hyperthyroidism, 50% with Hashimoto's thyroiditis and in 37.5% of patients with other thyroid disorders. When skeletal muscle cells were used as target, tests were positive in 13% of patients with TAO, 31% with lid lag, 25% with Graves' hyperthyroidism and in 29% of patients with Hashimoto's thyroiditis, but in no patient with euthyroid Graves' disease or other thyroid disorders. Tests were negative in all patients and normals tested when EOM-derived fibroblasts were used as targets in ADCC. A significant positive correlation between % cytotoxicity against EOM cells and the severity of the eye muscle dysfunction expressed as an eye muscle index, was observed in patients with TAO. There was a significant negative correlation between the duration of eye disease and % cytotoxicity against EOM cells, suggesting higher titers of cytotoxic antibodies in the early stages of TAO. There was no correlation between % cytotoxicity and serum level of anti-TSH receptor antibodies, measured in a radioreceptor assay. These findings suggest that autoimmunity against Müller's muscle may play a role in the pathogenesis of persistent lid lag and retraction. The nature of the EOM and Müller's muscle autoantigens recognized by cytotoxic antibodies in the serum of patients with TAO and related eye disorders is unknown.

Adult↗
PubMedDate not supplied

Effect of disinsertion of rectus eye muscles on aqueous humor composition in rabbits.

BACKGROUND AND OBJECTIVES: To evaluate aqueous humor composition and biochemical analysis in a rabbit model for anterior segment ischemia. MATERIALS AND METHODS: Six rabbits underwent bilateral disinsertion of the four rectus eye muscles. One day later, aqueous humor (0.1 to 0.2 mL) was withdrawn from the anterior chamber and the concentrations of electrolytes, glucose, and lactate were determined. Similar assessments were performed in 8 eyes of 4 control rabbits that were not operated on. RESULTS: Sodium and calcium concentrations (mean +/- standard deviation) were significantly higher in the study group than in the control group (142 +/- 2.9 vs 138 +/- 2 mmol/L, P = .002, and 1.4 +/- 0.1 vs 1.3 +/- 0 mmol/L, P = .005, respectively). Potassium concentrations were significantly lower in the study group than in the control group (4.1 +/- 0.5 vs 4.5 +/- 0.1 mmol/L; P = .02). The mean glucose level in the study group was 108.4 mg/dL, which is comparable to the published normal value of 108 mg/dL, and the mean lactate level was 124 mg/dL, which is significantly higher than the published normal value of 78 mg/dL (P = .001). CONCLUSIONS: Bilateral disinsertion of the four rectus muscles in rabbits resulted in a breakdown of the blood-aqueous barrier, as reflected and measured by an electrolyte imbalance. These experimental results may be useful in the future in searching for methods of manipulating the ischemic response. There is currently no indication to perform anterior chamber taps in humans for that purpose.

Animals↗
PubMed2002

Deficiency of alpha-dystroglycan in muscle-eye-brain disease.

Alpha-dystroglycan is a component of the dystrophin-glycoprotein-complex, which is the major mechanism of attachment between the cytoskeleton and the extracellular matrix. Muscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities and lissencephaly. We recently found that MEB is caused by mutations in the protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGnT1) gene. POMGnT1 is a glycosylation enzyme that participates in the synthesis of O-mannosyl glycan, a modification that is rare in mammals but is known to be a laminin-binding ligand of alpha-dystroglycan. Here we report a selective deficiency of alpha-dystroglycan in MEB patients. This finding suggests that alpha-dystroglycan is a potential target of POMGnT1 and that altered glycosylation of alpha-dystroglycan may play a critical role in the pathomechanism of MEB and some forms of muscular dystrophy.

Child↗
PubMed1989

Botulinum toxin therapy of eye muscle disorders. Safety and effectiveness. American Academy of Ophthalmology.

BTX injection has been used for 11 years by 292 ophthalmologists in 8,854 patients aged three months to 90 years in a variety of eye muscle and eyelid disorders. No systemic toxic reaction has occurred, local complications are few, and visual loss has not occurred in any case. In blepharospasm and hemifacial spasm BTX appears to fill an important need, since no other drug is reliably effective and since surgical interventions have substantial side effects. Strabismus cases with active uveitis, hypotony, previous detachment surgery, active thyroid eye disease, and recent paralytic strabismus are often poor candidates for surgical intervention. Some patients in each of these categories were treated effectively and safely by BTX injection. Surgery is clearly the preferred treatment modality in large angle deviations, in chronic paralytic strabismus, in cases where diplopia for a month or two from injection would incapacitate the patient, in nystagmus, in oblique muscle disorders and A-V patterns, where muscles have been misplaced and where restrictions to alignment have been created by disease or prior surgery. Side by side comparisons of surgery and injection in congenital esotropia and in concomitant strabismus of 50 PD or less should result in further clarification of treatment choices as to effectiveness, side effects and cost. BTX is presently available only to clinical investigators using the drug under research protocols.

Blepharospasm↗
PubMed1995

Native gel electrophoresis and isoelectric focusing of a 64-kilodalton eye muscle protein shows that it is an important target for serum autoantibodies in patients with thyroid-associated ophthalmopathy and not expressed in other skeletal muscle.

Although sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) and Western blotting are widely used to detect serum antibodies in patients with autoimmune disorders, this procedure unfolds and denatures proteins and may alter antibody-binding sites. We have used a gentle protocol for the preparation and purification of a 64-kilodalton (kDa) eye muscle (EM) membrane antigen associated with thyroid-associated ophthalmopathy (TAO) for use as antigen in immunoblotting. Pig EM membrane proteins were prepared from crude homogenates by high speed centrifugation and solubilized by hand homogenization. These native membrane proteins (NMprot) were then electrophoresed on an 8.5% polyacrylamide gel in the absence of SDS, reducing agents, or urea, and proteins from individual bands were eluted, applied to standard SDS-PAGE, and immunoblotted with selected TAO patient sera. A prominent 64-kDa protein, present in most of the bands, was recognized by autoantibodies in sera from 35% of the patients with TAO and 47% of those with Graves' hyperthyroidism without evident ophthalmopathy, but in only 4% of normal subjects. To further purify the 64-kDa protein and increase the sensitivity of immunoblotting, NMprot were separated by isoelectric focusing (IEF) in the absence of SDS, reducing agent, and urea. The 64-kDa protein appeared mainly in IEF fraction 7 and had an isoelectric point of 6.1-6.2. Similar results were found for a human EM protein of 64 kDa. Sera from groups of patients and normal subjects were tested in immunoblotting against a pig EM 64-kDa protein prepared from NMprot and purified in IEF. Tests were positive in 67% of patients with TAO, in 37.5% of those with Graves' hyperthyroidism without eye disease, in 11% of patients with Hashimoto's thyroiditis without eye disease, and in 9% of normal subjects. The 64-kDa protein was not found in other skeletal muscle. The demonstration that a native 64-kDa protein that is specifically targeted by autoantibodies in the serum of patients with TAO is expressed in EM, but not other skeletal muscle, greatly enhances its possible significance in the pathogenesis of this eye disorder.

Adult↗