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At least 19 recordsLinked to original sources
PubMed2006

Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?

Fukuyama-type congenital muscular dystrophy (FCMD) and laminin-alpha2 deficient congenital muscular dystrophy (MDC1A) are congenital muscular dystrophies (CMDs) and they both are categorized into the same clinical entity of muscular dystrophy as Duchenne muscular dystrophy (DMD). All three disorders share a common etiologic defect in the dystrophin-glycoprotein complex, which connects muscle structural proteins with the extracellular basement membrane. To investigate the pathophysiology of these CMDs, we generated microarray gene expression profiles of skeletal muscle from patients in various clinical stages. Despite diverse pathological changes, the correlation coefficient of overall gene expression among these samples was considerably high. We performed a multi-dimensional statistical analysis, the Distillation, to extract determinant genes that distinguish CMD muscle from normal controls. Up-regulated genes were primarily extracellular matrix (ECM) components, whereas down-regulated genes included structural components of mature muscle. These observations reflect active interstitial fibrosis with less active regeneration of muscle cell components in the CMDs, characteristics that are clearly distinct from those of DMD. Although the severity of fibrosis varied among the specimens tested, ECM gene expression was consistently high without substantial changes through the clinical course. Further, in situ hybridization showed more prominent ECM gene expression on muscle cells than on interstitial tissue cells, suggesting that ECM components are induced by regeneration process rather than by 'dystrophy.' These data imply that the etiology of FCMD and MDC1A differs from that of the chronic phase of classical muscular dystrophy, and the major pathophysiologic change in CMDs might instead result from primary active fibrosis.

Child↗
PubMed1989

Linkage analysis in granular corneal dystrophy (Groenouw I), Schnyder's crystalline corneal dystrophy, and Reis-Bücklers' corneal dystrophy.

Tight linkage was excluded for 8 markers in 37 blood relatives from 3 families, 29 of whom had granular corneal dystrophy (Groenouw I). Inconclusive results were obtained for linkage with four marker loci. The highest positive LOD score was 0.57 for linkage between glutamic pyruvic transaminase and granular corneal dystrophy. Tight linkage was excluded for glyoxalase-1 in eight individuals from one family with Schnyder's crystalline corneal dystrophy. Results were inconclusive for another six markers. Positive LOD scores were obtained for linkage with adenylate-kinase 1 and the ABO blood group, with values of 1.16 and 0.67, respectively. Among six blood relatives with Reis-Bücklers' corneal dystrophy, the highest positive LOD score was 1.17 for linkage with mitochondrial malic enzyme. For another six markers informative for linkage analysis, the results were inconsistent.

Blood Group Antigens↗
PubMed2005

Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.

Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy, slowly progressive skeletal myopathy and contractures of the neck, elbows and ankles. The causative mutation is either in the emerin gene (X-linked recessive EDMD) or lamin A/C gene (autosomal dominant EDMD2 or LGMD1B). We report three cases of EDMD, EDMD2 and LGMD1B. A 14-yr-old boy showed limitation of cervical flexion and contractures of both elbows and ankles. Sinus arrest with junctional escape beats was noted. He was diagnosed as X-linked recessive EDMD (MIM 310300). A 28-yr-old female showed severe wasting and weakness of humeroperoneal muscles. Marked limitation of cervical flexion and contractures of both elbows and ankles were noted. Varying degrees of AV block were noted. She was diagnosed as autosomal dominant EDMD2 (MIM 181350). A 41-yr-old female had contractures of both ankles and limb-girdle type muscular dystrophy. ECG revealed atrial tachycardia with high grade AV block. She was diagnosed as autosomal dominant LGMD1B (MIM 159001). Cardiac dysrhythmias in EDMD and LGMD1B include AV block, bradycardia, atrial tachycardia, atrial fibrillation, and atrial standstill, causing sudden death necessitating pacemaker implantation. Cardiologists should know about these unusual genetic diseases with conduction defects, especially in young adults.

Adolescent↗
PubMed2007

In vivo laser confocal microscopy findings for Bowman's layer dystrophies (Thiel-Behnke and Reis-Bücklers corneal dystrophies).

OBJECTIVE: To investigate microstructures in patients with genetically confirmed Bowman's layer dystrophies (Thiel-Behnke or Reis-Bücklers corneal dystrophy) using an in vivo laser scanning confocal microscope. DESIGN: Single-center, prospective, comparative small case series. PARTICIPANTS: Two patients from one pedigree (a 29-year-old woman and 58-year-old man) with Thiel-Behnke corneal dystrophy (Arg555Gln [R555Q] heterozygous missense mutation of human transforming growth factor beta-induced [TGFBI] gene) and 3 patients from one pedigree (a 70-year-old woman, 58-year-old man, and 14-year old man) with Reis-Bücklers corneal dystrophy (Arg124Leu [R124L] heterozygous missense mutation of the TGFBI gene) were examined. Two patients with Reis-Bücklers corneal dystrophy exhibited recurrence after corneal transplantation. TESTING: All patients were examined by slit-lamp biomicroscopy. The center and the peripheral cornea of both eyes also were examined by in vivo laser scanning confocal microscopey. Image analysis was used to identify the corneal epithelial and stromal deposits correlated with each disorder. MAIN OUTCOME MEASURES: Selected images of the corneal layers were evaluated qualitatively for the shape and degree of light reflection of the deposits. RESULTS: In each dystrophy, distinct characteristic deposits were observed in the epithelium and Bowman's layer, respectively, by in vivo laser scanning confocal microscopy. In Thiel-Behnke corneal dystrophy, the deposits in the epithelial basal cell layer showed homogeneous reflectivity with round edges accompanying dark shadows. In contrast, deposits in Reis-Bücklers corneal dystrophy in the same cell layer showed extremely high reflectivity from small granular materials without any shadows in all cases. In each dystrophy, Bowman's layer was replaced totally with pathological materials; the reflectivity of those materials is much higher in Reis-Bücklers corneal dystrophy than in Thiel-Behnke corneal dystrophy. CONCLUSIONS: In vivo laser scanning confocal microscopy is capable of identifying in vivo corneal microstructural changes related to Thiel-Behnke and Reis-Bückler corneal dystrophy with a higher resolution than is available with slit-lamp biomicroscopy or in vivo white-light confocal microscopy. As a result, this device may enable differentiation of Thiel-Behnke and Reis-Bücklers corneal dystrophy in vivo. In vivo laser scanning confocal microscopy also may be a valuable tool for further research into the corneal dystrophies, especially to follow the natural course.

Adolescent↗
PubMed1999

[Honeycomb-shaped corneal dystrophy of Thiel and Behnke. Reclassification and distinction from reis-Bücklers' corneal dystrophy].

BACKGROUND: The honeycomb-shaped dystrophy of Thiel and Behnke has been misunderstood for a long time and has erroneously been classified as Reis-Bücklers' dystrophy. The mistake originates in historical misunderstandings concerning the interpretation of the original Reis-Bücklers' dystrophy which results in a nonuniform nomenclature and a permanent confusion in the evaluation of the superficial stroma dystrophies. This paper intends to clarify the original identity of the honeycomb corneal dystrophy and to distinguish it from the Reis-Bücklers' dystrophy. PATIENTS AND METHODS: We examined seven patients of the original family of Thiel and Behnke. Five of them were newly detected, two of them were reexamined. The histological findings were reevaluated, and the diagnosis was proved by electron microscopic study of corneal specimens. RESULTS: The honeycomb dystrophy is characterized by: (1) dominant inheritance, (2) early manifestation, (3) slow progression, (4) painful erosions during childhood, (5) subepithelial corneal opacities with a clear limbal zone, (6) honeycomb-shaped opacity pattern, (7) recurrence in the graft following keratoplasty, (8) subepithelial fibrous tissue in wave-like accumulation in histologic sections, (9) curly filaments observed by electron microscopy. The clinical symptoms hardly differ from those of Reis-Bücklers' dystrophy. The histological appearance, however, is clearly distinct and curly filaments are the pathognomonic ultrastructural features. CONCLUSIONS: The honeycomb dystrophy represents a definite corneal disease. The terms "Reis-Bücklers' dystrophy" and "ring dystrophy" used for it up to now are wrong and should be eliminated in this context. The only correct term of the disease is honeycomb-shaped dystrophy (Thiel-Behnke) according to its first description and major clinical features. The eponym Reis-Bücklers' dystrophy should only be used for the corneal dystrophy described by Reis and Bücklers.

Adolescent↗
PubMedDate not supplied

Corneal dystrophies. I. Dystrophies of the epithelium, Bowman's layer and stroma.

Most corneal dystrophies are autosomal dominant, bilateral disorders that primarily affect one layer of an otherwise normal cornea, progress slowly after their appearance in the first or second decade, and are not associated with a systemic disease. Epithelial basement membrane dystrophy and Fuchs' endothelial dystrophy are seen commonly by the general ophthalmologist; fleck, posterior polymorphous, granular or lattice dystrophies are seen more rarely, and others may never be seen in general office practice. While the distinctive clinical appearance of most corneal dystrophies allows accurate diagnosis, the integration of slitlamp findings with histopathologic and biochemical findings aids in the understanding of the clinical observations and provides a more rational basis for therapy. Transmission electtron microscopy is the most accurate method of histopathologic diagnosis. Epithelial dystrophies usually manifest intraepithelial cysts and abnormal basement membrane. In stromal dystrophies, an abnormal substance accumulates within the keratocytes or among the collagen fibrils; it may be an excess normal metabolite (like glycosaminoglycans in macular dystrophy), a material not usually present (like amyloid in lattice dystrophy), or a substance of unknown composition (like hyaline in granular dystrophy). Each dystrophy is illustrated with a composite drawing. Endothelial dystrophies will be reviewed separately in a second article.

Adolescent↗
PubMed1997

Obstetric aspects in women with facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, and congenital myopathies.

OBJECTIVE: To increase the knowledge about pregnancy and delivery in women with certain muscle diseases, which is important for obstetric management and family planning of affected women. DESIGN: The obstetric histories of patients with facioscapulohumeral (FSH) muscular dystrophy, limb-girdle (LG) muscular dystrophy, and congenital myopathies (CM) were retrospectively evaluated using questionnaires and medical reports. PATIENTS: The condition of 27 patients with different myopathies (FSH muscular dystrophy, n = 11; LG muscular dystrophy, n = 9; and CM, n = 7 [subdivided into 5 patients with central core disease, 1 patient with cytoplasmic bodies, and 1 patient with unspecified myopathy]) were ascertained from January 1, 1992, to December 31, 1994, through departments of neurology and human genetics, and the German self-support group for muscle diseases. Fifty-eight gestations resulting in 52 live births were reviewed. RESULTS: Miscarriages were reported in 3 of 26 gestations in 11 patients with FSH dystrophy, whereas 3 of 15 pregnancies in patients with LG dystrophy were terminated. Preterm births occurred in 2 patients with FSH dystrophy and in 3 patients with CM. Operative deliveries (vaginal operation or cesarean section) were performed in 6 of 23 gestations in patients with FSH dystrophy (1 emergency section), in 5 of 12 patients with LG dystrophy (2 emergency sections), and in 3 of 17 deliveries in patients with CM. Patients with FSH dystrophy generally coped well with their muscle disease in pregnancy and after delivery; however, 4 women were stated to have difficulties in caring for their families. The situation differed in LG dystrophy, where most women (5 of 9) experienced worsening of weakness in pregnancy and required assistance after delivery. In the patients with CM, 3 women experienced a deterioration during pregnancy, and 4 patients reported difficulties after delivery. CONCLUSIONS: No deleterious outcome of pregnancy and labor was observed in this series of patients with muscular dystrophy or CM, although operative deliveries were more frequent. A significant aggravation of symptoms in gestation is more likely to occur in patients with early-onset and progressive myopathy than in those with stable disease courses.

Adolescent↗
PubMed1992

[Central areolar pigment epithelium dystrophy. Its differentiation from other dominant macular dystrophies].

Central areolar pigment epithelial dystrophy (CAPE dystrophy) is a rare, dominantly transmitted, dystrophy of the retinal pigment epithelium. The disease does not cause severe loss of function. This is partly due to the slightly eccentric localization of the dystrophy (the pigment epitheliopathy has a paramacular temporal localization). The disease is not progressive. Characteristic features are near-normal or normal visual acuity, undisturbed colour vision and normal ERG and EOG. Because of the eccentric position of the dystrophy, we suggest renaming this hereditary dystrophy of the macula as "paramacular areolar pigment epithelial dystrophy". The most important conditions that must be considered in the differential diagnosis are all dominantly inherited macular dystrophies. The most decisive criteria of paramacular areolar pigment epithelial dystrophy are good visual acuity, intact colour vision and normal electrophysiological findings. Because of the dominant transmission with high expressivity and high penetrance, it must be assumed that this dystrophy occurs more frequently than it is diagnosed. Because of the lack of complaints in patients it can easily be overlooked. However, the paramacular areolar pigment epithelial dystrophy should be included in every differential diagnosis of inherited macular dystrophy.

Adolescent↗
PubMed1996

Nondystrophinopathic muscular dystrophies including myotonic dystrophy.

The spectacular progress concerning dystrophin and its pathology, the dystrophinopathies, has led to a somewhat arbitrarily separated heterogeneous group of nondystrophinopathic muscular dystrophies that currently comprise the Emery-Dreifuss type, the nosologically heterogeneous autosomal-recessive limb-girdle muscular dystrophy, the severe childhood autosomal-recessive muscular dystrophy, the merosin-positive and -negative congenital muscular dystrophies, the autosomal-recessive distal muscular dystrophy of Miyoshi, the facio-scapulo-humeral muscular dystrophy, and myotonic dystrophy, both the adult and neonatal variants. Deficiencies of adhalin in a particular form of limb-girdle muscular dystrophy, and of merosin in a particular form of congenital muscular dystrophy as well as the newly discovered principle of abnormal tri-nucleotide repeats in myotonic dystrophy are evidence of progress that has also amplified the notion of the dystrophinopathies that the protein-deficient muscular dystrophies can now be considered examples of contributions of the dystrophin-glycoprotein complex across the muscle fiber plasma membrane.

Adolescent↗
PubMed1997

Cardiac involvement in patients with myotonic dystrophy, Becker's muscular dystrophy and mitochondrial myopathy.

The aim of this prospective study was to classify cardiac involvement in myopathies by means of a comprehensive cardiac investigation, to determine the rate of cardiac involvement in myopathies according to this classification and to compare the validity of previously reported electro-cardiographic myopathy indices (QT/PQs, P/PQs, R/S) with that of the comprehensive cardiac investigation. We included 14 patients with myotonic dystrophy, 6 patients with Becker's muscular dystrophy and 10 patients with mitochondrial myopathy. Cardiac involvement was classified as either "definite", "equivocal" or "absent" by assessing cardiovascular history, physical examination, electrocardiography, echocardiography and 24-hour ambulatory electrocardiography. "Definite"/"equivocal"/"absent" cardiac involvement was found in 12/2/0 myotonic dystrophy, 3/3/0 Becker's muscular dystrophy and 6/3/1 mitochondrial myopathy patients. Electrocardiographic myopathy indices were pathologic in 3 Becker's muscular dystrophy, 6 mitochondrial myopathy but in none of the myotonic dystrophy patients. The proposed comprehensive cardiac investigation is simple, inexpensive and effective in assessing cardiac involvement in patients with myotonic dystrophy. Becker's muscular dystrophy and mitochondrial myopathy. In case of cardiac involvement, cardiac therapy might be one of the few therapeutic options for these patients.

Adolescent↗
PubMed2000

Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3.

PURPOSE: There is an ongoing discussion whether Lisch corneal dystrophy (band-shaped and whorled microcystic dystrophy of the corneal epithelium) represents a disorder that is different from Meesmann corneal dystrophy. The purpose of this study was to evaluate at the molecular level if Lisch and Meesmann corneal dystrophies are genetically distinct. METHODS: We examined at the slit lamp a total of 48 members of a family with an aggregation of Lisch corneal dystrophy. Genomic DNA was extracted from leukocytes of the peripheral blood of seven affected and six unaffected members of this family. Mutational hotspots in the cornea-specific keratin genes K3 and K12 were scanned for mutations by single-strand conformation analysis. To test for linkage to the keratin K3 or K12 loci or for X-chromosomal inheritance, six (K3) and four (K12) microsatellite markers each flanking the keratin loci as well as 22 microsatellite markers covering the X-chromosome were typed. Linkage was analyzed using the MLINK and FASTMAP procedures. RESULTS: A total of 19 trait carriers were identified in six generations of the family. No hereditary transmission from father to son was observed. Linkage was excluded for the keratin K3 and K12 genes. Furthermore, single-strand conformation analysis detected no mutations in these genes. Multipoint linkage analysis revealed linkage with a maximum likelihood of the odds (LOD) score of 2.93 at Xp22.3. Linkage was excluded for Xp22.2 to Xqter. CONCLUSIONS: Lisch corneal dystrophy is genetically different from Meesmann corneal dystrophy. Evidence was found for linkage of the gene for Lisch corneal dystrophy to Xp22.3.

Adolescent↗
PubMed2003

In vivo confocal microscopy of Fleck dystrophy and pre-Descemet's membrane corneal dystrophy.

PURPOSE: To assess the value of in vivo confocal microscopy (CM) in the diagnosis of Fleck dystrophy and pre-Descemet's membrane corneal dystrophy. METHODS: Case report of two patients. Standard slit-lamp and ophthalmic examination and in vivo CM were performed on both patients. The thickness of the cornea and the morphology of the corneal epithelium, stroma, endothelium, and subbasal nerves were evaluated by confocal microscopy. RESULTS: Biomicroscopy revealed bilateral, fine, dust-, and flour-like opacities in the corneal stroma for the Fleck dystrophy patient. In the pre-Descemet's membrane corneal dystrophy patient, biomicroscopy showed opacities larger than those in the first patient. Both patients were then examined by in vivo CM. Confocal microscopy of the Fleck dystrophy showed intracellular deposits throughout the stroma. In pre-Descemet's membrane corneal dystrophy, however, these and the extracellular deposits were observed immediately anterior to Descemet's membrane. The thicknesses of the corneas were 560 and 650 microm for Fleck and pre-Descemet's membrane corneal dystrophy, respectively. The surface epithelium, subbasal nerves, and endothelium showed normal morphology in both patients. CONCLUSION: In vivo CM is a valuable tool in diagnosing rare corneal dystrophies when the final diagnosis is difficult to obtain with conventional methods.

Adult↗
PubMed1992

North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. One family, one disease.

The autosomal-dominant macular dystrophies known as North Carolina macular dystrophy and central areolar pigment epithelial dystrophy were originally described as distinct disease entities in three separate families. However, these disorders have several phenotypic features in common. The single large family with North Carolina macular dystrophy, which descended from three Irish brothers in 1790, has undergone extensive genealogic studies expanding the kindred to more than 2000 family members. As a result, two previously described families with central areolar pigment epithelial dystrophy have been found to descend from these same three Irish brothers with North Carolina macular dystrophy and, therefore, also have North Carolina macular dystrophy. This helps simplify the nosology of the disease and expands the phenotype of North Carolina macular dystrophy to include choroidal neovascular membranes.

Child↗
PubMed1995

Autosomal dominant macular dystrophy simulating North Carolina macular dystrophy.

OBJECTIVE: To characterize an autosomal dominant macular dystrophy with highly variable expression that does not fall clearly into a known disease entity. METHODS AND PATIENTS: Clinical, angiographic, and electrophysiologic data of five affected members in a family of Indian origin were evaluated. Molecular genetic analysis was undertaken to assess whether the gene responsible for the phenotype in this pedigree mapped to a region previously assigned to dominantly inherited macular dystrophies, including North Carolina macular dystrophy. RESULTS: The fundus appearance in the proband simulated stage 3 North Carolina macular dystrophy. Affected relatives had features in common with pattern dystrophy, fundus flavimaculatus with a dark choroid, and dominantly inherited drusen. Linkage to loci assigned to a number of retinal dystrophies principally affecting the posterior pole, including the North Carolina macular dystrophy locus, was excluded. CONCLUSION: The findings support the view that different genotypes are associated with similar phenotypes in autosomal dominant macular dystrophy.

Adult↗
PubMed1998

Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy.

Emery-Dreifuss muscular dystrophy is an X-linked neuromuscular disorder caused by defects in the STA gene on Xq28, which codes for a nuclear protein named emerin. Affected patients usually present in early adolescence with scapulo-peroneal muscle weakness and wasting, and contractures of the tendo Achilles, elbows and paraspinal muscles, resulting in spine rigidity. We present here a case of Emery-Dreifuss muscular dystrophy with an unusually severe, early presentation. He presented at 2.5 years with predominantly proximal weakness and mild equinovarus deformity of the right foot. Serum creatine kinase activity was elevated (1994 IU/I) and a muscle biopsy at the age of 4 years showed marked dystrophic abnormalities. Normal expression of dystrophin, and no detectable deletion in the corresponding gene, excluded a diagnosis of Duchenne muscular dystrophy. Similarly, normal expression of alpha-sarcoglycan made a limb-girdle muscular dystrophy caused by a defect in a sarcoglycan unlikely. Several years later, examination of the proband's maternal cousin, aged 14 years, suggested Emery-Dreifuss muscular dystrophy. This was confirmed in both affected boys by the absence of emerin in muscle and leucocytes, and identification of a mutation in exon 4 of the STA gene. Carrier status in both mothers was also confirmed by mutational and protein analysis. Emery-Dreifuss muscular dystrophy should therefore be considered in the differential diagnosis of cases of early onset muscular dystrophy, even in the absence of the typical clinical features.

Age of Onset↗