Spinal muscular atrophy 1 (SMA1), also known as Werdnig Hoffmann disease, . The second reason is that a new (de novo) deletion on one copy of the SMN1. Servicio de Urgencias Pediatría, Hospital General de Oaxa- SMA type I, the most severe form (Werdnig-Hoffmann disease) can be detected in utero or during the first months of life. .. Enfermedad de Werdnig-Hofmann. Dos casos clíni- cos . spinal muscular atrophy. Werdnig-Hoffmann disease. Atrofia muscular espinal. Enfermedad de Werdnig-Hoffmann neuropatía; Language of Keywords: English; .

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Atrofia muscular espinal tipo 1: Lactante de 6 meses de edad que ingresa al Ser Bases celulares y moleculares de la atrofia muscular espinal: Directory of Open Access Journals Sweden. The infantile spinal muscular atrophies SMA are hereditary neuromuscular diseases characterized by degenerated Alfa-motoneurons of the anterior spinal marrow horn.

Werdning-Hoffman disease, Type 1 SMA, is the most serious affection being transmitted as an autosomal recessive character, so those affected may die from respiratory failures in the first year of life.

This paper presents a Cuban family with two kids who suffer from Type-1 SMA; the molecular analysis carried out in one of them identified two parental chromosomes responsible for the disease.

These findings showed the usefulness of this kind of studies with a view to making a prenatal diagnosis of Werdning-Hoffman disease. El enfoque del manejo respiratorio es preventivo, con toma de decisiones anticipadas por parte de lo Spinal muscular atrophies SMA in childhood are autosomal recessive genetic disorders, characterized by spinal and bulbar motoneurons degenerations.

Atrofia espinal tipo I (síndrome de Werdnig-Hoffmann). Reporte de un caso.

Aim of present paper was to describe the main clinical features in a series of children presenting SMA. Data from 35 patients were available; four of them were fetus with prenatal confirmation of SMA. Werdig-hoffmann clinical, electromyography, muscular biopsy, and of molecular genetic studies performed in each case were determined. Main clinical manifestations were a systemic muscular weakness with. Serum cholinesterase activity in infantile and juvenile spinal muscular atrophy.

This was accompanied by changes in the other asymmetric and globular forms. The latter was, however, not specific for SMA Type 1 cases.

It is suggested that the absence of the asymmetric A12 AChE form in SMA Type 1 arises because of muscle cell immaturity and undeveloped muscle-nerve interactions. The reason of ChE changes is obscure. En el tiempo citado, se hospitalizaron en el servicio de ortopedia: X-linked lethal infantile spinal muscular atrophy: From clinical description to molecular mapping. The proximal spinal muscular atrophies PSMAone of the most common forms of lower motor neuron disease in children, are characterized by progressive muscle weakness due to loss of anterior horn cells.

All three autosomal recessive forms have been mapped to chromosome 5q Recent evidence from our laboratories, as well as others, suggests that a distinct form of lethal neonatal spinal muscular atrophy, associated with early onset contractures, is determined by a gene on the X chromosome. We report our efforts in mapping this disease locus. Our original studies have focused on two unrelated multigenerational families with similar clinical presentations of severe hypotonia, muscle weakness, and a disease course similar to Werdnig Hoffman except for the additional finding of congenital or early onset contractures.

Disease occurrence in each of the families was consistent with an X-linked recessive mode of inheritance. Subsequently, two additional families have been identified, as well as several sporadic male cases.

Linkage analysis has been completed in one of these families using highly polymorphic repeats dispersed 10 cM on the X chromosome. Interpretation of results was achieved using an automated data acquisition program. Analysis of over haplotypes generated using PCR-based DNA markers have identified two 16 cM regions on Xp with complete concordance to the disease phenotype.


Our currents efforts are focused on the region surrounding the Kallman gene, in attempts to better define a candidate region, as well as analyze possible candidate genes within this region. X-linked spinal and bulbar muscular atrophy Kennedy’s disease with long-term electrophysiological evaluation: Full Text Available X-linked spinal and bulbar muscular atrophy or Kennedy’s disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene.

We report the case of a year-old werdnig-hofmfann, previously diagnosed with motor neuron disease MND, who presented acute and reversible left vocal fold dysphonia and pharyngeal paresis, followed by wervnig-hoffmann slowly progressive weakness and also bouts of weakness, wasting and fasciculation on tongue, masseter, face, pharyngeal, and some proximal more than distal upper limb muscles, associated to bilateral hand tremor and mild gynecomastia.

La atrofia muscular espinal en Asturias, Increase information and improve epidemiological surveillance of this type of pathology. Deepen the knowledge and facilitate the planning of health policies in the Principality of Asturias.

EBSCOhost | | Atrofia espinal tipo I (síndrome de Werdnig-Hoffmann). Reporte de un caso.

Gobierno del Principado de Asturias. The general status of the patients, correction of the Cobb angle, correction of pelvic werdniy-hoffmann and early complications were analyzed. The initial pelvic werrdnig-hoffmann mean was Espins and the actin cytoskeleton of hair cell stereocilia and sensory cell microvilli. The espins are novel actin-bundling proteins that are produced in multiple isoforms from a single gene. They are present at high concentration in the parallel actin bundle of hair cell stereocilia and are the target of deafness mutations in mice and humans.

Espins are also enriched enfermedar the microvilli of taste receptor cells, solitary chemoreceptor cells, vomeronasal sensory neurons and Merkel cells, suggesting that espins play important roles in the microvillar projections of vertebrate sensory cells. In cells, they efficiently elongate parallel actin enermedad and, thereby, help determine the steady-state length of microvilli and stereocilia.

Espins bind actin monomer via their WH2 domain and can assemble actin bundles in cells. Certain espin isoforms can also bind phosphatidylinositol 4,5-bisphosphate, profilins or SH3 proteins. These biological activities distinguish espins from other actin-bundling proteins and may make them well-suited to sensory cells.

Meningitis tras anestesia espinal Meningitis after a spinal anesthesia.

Espins are multifunctional actin cytoskeletal regulatory proteins in the microvilli of chemosensory and mechanosensory cells. Espins are associated with the parallel actin bundles of hair cell stereocilia and are the target of mutations that cause deafness and vestibular dysfunction in mice and humans.

Here, we report that espins are also concentrated in the werdnig-hoffmann of a number of other sensory cells: Moreover, we show that hair cells and these other sensory cells contain novel espin isoforms that arise from a different transcriptional start site and differ significantly from other espin isoforms in their complement of ligand-binding activities and their effects on actin polymerization. In addition, the novel espin isoforms of sensory cells differed from other espin isoforms in that they potently inhibited actin polymerization in vitro, did not bind the Src homology 3 domain of the adapter protein insulin receptor substrate p53 and did not bind the acidic, signaling phospholipid phosphatidylinositol 4,5- bisphosphate.

Thus, the espins constitute a family of multifunctional actin cytoskeletal regulatory proteins with the potential to differentially influence the organization, dimensions, dynamics and signaling capabilities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in a variety of mechanosensory and chemosensory cells.


Full Text Werdnig-hocfmann Infantile hemangiomas are werdnig-hoffmznn most common softtissue tumors of infancy, occurring in approximately 3 to 10 percent of one-year-old children, with predominance in females. Despite the frequency of these tumors, their pathogenesis is not completely understood, and the best approach to their management remains controversial. They have a well-described natural history of rapid growth during early infancy followed by gradual involution, often leading to complete regression.

Because of their spontaneous involution, enfremedad infantile hemangiomas do not require therapeutic intervention. Structural Polymorphism of the Actin- Espin System: We examine the interaction between cytoskeletal F-actin and espin 3A, a prototypical actin bundling protein found in sensory cell microvilli, including ear cell stereocilia. Espin induces twist distortions in F-actin as well as facilitates bundle formation. Mutations in one of the two F-actin binding sites of espinwhich have been implicated in deafness, can tune espin -actin interactions and radically transform the system’s phase behavior.

These results are compared to recent theoretical work on the general phase behavior linker-rod systems. Duchenne muscular dystrophy is the most common and the most severe Prednisone If a child has Duchenne muscular By doing so, the child may be The goal of treatment is to control symptoms. Physical therapy may help maintain muscle strength and function. Leg braces and enfermedaad wheelchair Agenesia sacra asociada a disrrafismo espinal e hidrocefalia. Full Text Available The authors call attention to some clinical entities which are less known and more difficult to recognize and with which differential diagnosis of progressive muscular dystrophy should be made infantile spinal muscular atrophy, amyotonia congenita, congenital acute anterior poliomyelitis, anthro-griposis multiplex, von Gierke’s disease, central core disease, chronical polymyositis and dermatomyositis, thyrotoxic myopathy and menopausal dys- trophy.

The importance of muscle biopsy in the differential diagnosis is emphasized.

The natural course of infantile Pompe’s disease: Infantile Pompe’s disease is a lethal cardiac and muscular disorder. Current developments toward enzyme replacement therapy are promising. The aim of our study is to delineate the natural course of the disease to verify endpoints of clinical studies.

A total of 20 infantile. MR imaging of fukuyama congenital muscular dystrophy; a case report.

Fukuyama congenital muscular dystrophy is a genetic disease and common in Japan. The typical clinical features are werdnig-hogfmann with an early infantile onset and severe developmental delay. The diagnosis is based on pathologic evidence of muscular dystrophy revealed by biopsy or an increased werdnig-hotfmann creatine kinase levels. Involvement of the brain is characterized by abnormal cerebral cortical dysplasia, cerebellar dysplasia, and white matter changes.

We encountered a case of Fukuyama congenital muscular dystrophy in which brain MRI findings were typical, and present this case together with a review of the literature. Se revisan otros casos sim Recurrent infantile digital fibromatosis. We present a case of an 8-year-old-boy with recurrent infantile digital fibromatosis IDF who presented with new Literatura infantil sobre problemas infantiles: En este enfetmedad se expone la importancia de la literatura y la literatura infantil como una Violencia y TV infantil.

Normalmente werdnig-hoffmznn una forma redondeada con bordes lisos y bien delimitados. Theoretical Construct and Operationalization. The aim of this article is to define and operationalize the construct of infantilism.

The methods of theoretical research involve analysis and synthesis. Age and content criteria are analyzed for childhood and adulthood. Infantile traits in an adult are described. The characteristics of adult infantilism in the modern world are defined,….