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Corrado Angelini - One of the best experts on this subject based on the ideXlab platform.

  • Spinal Muscular Atrophy Type 1, Werdnig-Hoffmann Disease
    Genetic Neuromuscular Disorders, 2014
    Co-Authors: Corrado Angelini
    Abstract:

    Spinal muscular atrophy type 1 (SMA1), or Werdnig-Hoffmann Disease type 1, is an inherited neuromuscular disorder characterized by an infantile onset of severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brainstem nuclei. Its prevalence is estimated to be about 1/80,000. The onset of the Disease occurs before 6 months of age, with severe muscle weakness first affecting proximal limbs and then progressing to the extremities. Poor sucking ability and reduced swallowing usually lead to feeding difficulties. Deep tendon reflexes are absent. Mild contractures of the knees and the elbows and scoliosis may be present. Patients are not able to sit without support and will never be able to walk. Respiratory failure is common, and respiratory support is necessary; gastrostomy may be also useful. The prognosis is generally poor with most patients dying within the first 2 years of life due to respiratory failure. Some patients have stable symptoms and may live longer.

  • Spinal Muscular Atrophy Type 2, Werdnig-Hoffmann Disease
    Genetic Neuromuscular Disorders, 2014
    Co-Authors: Corrado Angelini
    Abstract:

    Spinal muscular atrophy type 2 (SMA2), or Werdnig-Hoffmann Disease type 2, is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brainstem nuclei. SMA2 is intermediate in severity between the infantile form SMA1 and the juvenile form SMA3. The onset of the Disease occurs between the ages of 6 and 18 months. Patients have usually difficulty sitting and are unable to stand and walk by the age of 1 year. The muscle weakness predominantly affects the legs and trunk muscles. Finger trembling, respiratory failure, scoliosis, and fractures in response to minimal trauma are common. SMA2 is caused by deletions in the SMN1 gene (Table 67.1), encoding the survival motor neuron protein. The Disease severity in SMA is inversely correlated with the number of copies of the second SMN2 gene, with patients with SMA2 having on average three SMN2 copies. Deletions of the NAIP gene have also been identified in SMA2 patients and may play a role in modifying Disease severity.

John R. Bach - One of the best experts on this subject based on the ideXlab platform.

Judith Melki - One of the best experts on this subject based on the ideXlab platform.

  • The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann Disease.
    American journal of human genetics, 1997
    Co-Authors: Lydie Burglen, Peter Burlet, Suzie Lefebvre, Arnold Munnich, T Seroz, Pierre Miniou, E V Pequignot, Jean-marc Egly, Judith Melki
    Abstract:

    Mutations of the survival motor neurone gene (SMN) are associated with spinal muscular atrophy (SMA), a frequent lethal autosomal recessive disorder. In spite of this, no phenotype-genotype correlation was observed, since the SMN gene is lacking in the majority of patients affected with either the severe form (type I) or the milder forms (types II and III). Here, we show that the gene encoding p44, a subunit of the basal transcription factor TFIIH, is duplicated in the SMA region and that the p44 gene products (p44t and p44c) differ by three amino acid changes. Gene analysis of a total of 94 unrelated SMA patients revealed that the p44t gene is involved in large-scale deletions associated with Werdnig-Hoffmann Disease (type I). The TFIIH polypeptide composition as well as transcription and DNA repair activities are normal in patients lacking the p44t gene on both mutant chromosomes, suggesting that the p44t gene is not critical for the development of SMA.

  • Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann Disease.
    Journal of medical genetics, 1996
    Co-Authors: Peter Burlet, Suzie Lefebvre, Olivier Clermont, Arnold Munnich, Lydie Burglen, Louis Viollet, Judith Melki
    Abstract:

    Spinal muscular atrophy (SMA) is characterised by degeneration of anterior horn cells of the spinal cord and represents the second most common, lethal, autosomal recessive disorder after cystic fibrosis. Based on the criteria of the Internatinal SMA Consortium, childhood SMAs are classified into type I (Werdnig-Hoffmann Disease), type II (intermediate form), and type III (Kugelberg-Welander Disease). Recently, two genes have been found to be associated with SMA. The survival motor neurone gene (SMN) is an SMA determining gene as it is absent in 98.6% of patients. A second gene, XS2G3, or the highly homologous neuronal apoptosis inhibitory protein gene (NAIP) have been found to be more frequently deleted in type I than in the milder forms (types II and III). We investigated the correlation between the clinical phenotype and the genotype at this loci. A total of 106 patients were classified into type I (44), type II (31), and type III (31) and analysed using SMN, markers C212 and C272, and NAIP mapping upstream and downstream from SMN respectively. The combined analysis of all markers showed a large proportion of type I patients (43%) carried deletions of both SMN and its flanking markers (C212/272) and NAIP exon 5), as compared with none of the patients with type II or III SMA. The presence of large scale deletions involving these loci is specific to Werdnig-Hoffman Disease (type I) and allows one to predict the severity of the Disease in our series.

  • Largescale deletions ofthe5q13region are specific toWerdnig-Hoffmann Disease
    1996
    Co-Authors: Peter Burlet, Olivier Clermont, Judith Melki
    Abstract:

    Spinal muscularatrophy (SMA)ischaracterised bydegeneration ofanterior horn cells ofthespinal cordandrepresents the secondmostcommon,lethal, autosomal recessive disorder aftercystic fibrosis. Basedonthecriteria oftheInternatinal SMA Consortium, childhood SMAs are classified intotypeI(Werdnig-Hoffmann Disease), typeII(intermediate form), and

  • Prenatal prediction of Werdnig-Hoffmann Disease using linked polymorphic DNA probes.
    Journal of medical genetics, 1992
    Co-Authors: Judith Melki, Peter Burlet, Sonia Abdelhak, Valérie Raclin, Josseline Kaplan, R Spiegel, S Gilgenkrantz, N Philip, M L Chauvet, Yves Dumez
    Abstract:

    Werdnig-Hoffmann Disease is a common autosomal recessive neuromuscular disorder that results in paralysis and death. No treatment to prevent this Disease or to alter its unremitting course has been found. Recently, linkage analysis with cloned DNA probes has shown that the mutation causing Werdnig-Hoffmann Disease is located on chromosome 5q12-q14. We performed genetic analysis for the prenatal diagnosis of Werdnig-Hoffmann Disease in seven at risk families. Two fetuses were diagnosed as being affected and the remainder as unaffected, and this was confirmed after birth. This study shows that prenatal diagnosis of Werdnig-Hoffmann Disease has become feasible.

Rania M Hegazy - One of the best experts on this subject based on the ideXlab platform.

  • Blake's pouch cyst and Werdnig-Hoffmann Disease: Report of a new association and review of the literature.
    Surgical neurology international, 2014
    Co-Authors: Sherien A Shohoud, Waleed A Azab, Tarek M Alsheikh, Rania M Hegazy
    Abstract:

    We report a case of a neonate with proximal spinal muscular atrophy (SMA) type 1 (also known as Werdnig-Hoffmann Disease or severe infantile acute SMA) associated with a Blake's pouch cyst; a malformation that is currently classified within the spectrum of Dandy-Walker complex. The association of the two conditions has not been previously reported in the English literature. A comprehensive review of the pertinent literature is presented. A male neonate was noted to have paucity of movement of the four limbs with difficulty of breathing and poor feeding soon after birth. Respiratory distress with tachypnea, necessitated endotracheal intubation and mechanical ventilation. Pregnancy was uneventful except for decreased fetal movements reported by the mother during the third trimester. Neurological examination revealed generalized hypotonia with decreased muscle power of all limbs, nonelicitable deep tendon jerks, and occasional tongue fasciculations. Molecular genetic evaluation revealed a homozygous deletion of both exons 7 and 8 of the survival motor neuron 1 (SMN1) gene, and exon 5 of the neuronal apoptosis inhibitory protein (NAIP) gene on the long arm of chromosome 5 consistent with Werdnig-Hoffmann Disease (SMA type 1). At the age of 5 months, a full anterior fontanelle and abnormal increase of the occipito-frontal circumference were noted. Computed tomographic (CT) scan and magnetic resonance imaging (MRI) of the brain revealed a tetraventricular hydrocephalus and features of Blake's pouch cyst of the fourth ventricle. This case represents a previously unreported association of Blake's pouch cyst and SMA type 1.

  • Blake's pouch cyst and Werdnig-Hoffmann Disease: Report of a new association and review of the literature.
    Surgical Neurology International, 2014
    Co-Authors: Sherien A Shohoud, Waleed A Azab, Tarek M Alsheikh, Rania M Hegazy
    Abstract:

    Background: We report a case of a neonate with proximal spinal muscular atrophy (SMA) type 1 (also known as Werdnig-Hoffmann Disease or severe infantile acute SMA) associated with a Blake's pouch cyst; a malformation that is currently classified within the spectrum of Dandy-Walker complex. The association of the two conditions has not been previously reported in the English literature. A comprehensive review of the pertinent literature is presented. Case Description: A male neonate was noted to have paucity of movement of the four limbs with difficulty of breathing and poor feeding soon after birth. Respiratory distress with tachypnea, necessitated endotracheal intubation and mechanical ventilation. Pregnancy was uneventful except for decreased fetal movements reported by the mother during the third trimester. Neurological examination revealed generalized hypotonia with decreased muscle power of all limbs, nonelicitable deep tendon jerks, and occasional tongue fasciculations. Molecular genetic evaluation revealed a homozygous deletion of both exons 7 and 8 of the survival motor neuron 1 (SMN1) gene, and exon 5 of the neuronal apoptosis inhibitory protein (NAIP) gene on the long arm of chromosome 5 consistent with Werdnig-Hoffmann Disease (SMA type 1). At the age of 5 months, a full anterior fontanelle and abnormal increase of the occipito-frontal circumference were noted. Computed tomographic (CT) scan and magnetic resonance imaging (MRI) of the brain revealed a tetraventricular hydrocephalus and features of Blake's pouch cyst of the fourth ventricle. Conclusions: This case represents a previously unreported association of Blake's pouch cyst and SMA type 1.

Eliana Maria Vasconcelos - One of the best experts on this subject based on the ideXlab platform.

  • Total intravenous anesthesia (TIVA) in an infant with Werdnig-Hoffmann Disease: case report
    Revista Brasileira De Anestesiologia, 2010
    Co-Authors: Marco Antonio Cardoso De Resende, Elizabeth Vaz Da Silva, Osvaldo J. M. Nascimento, Alberto Esteves Gemal, Giseli Quintanilha, Eliana Maria Vasconcelos
    Abstract:

    BACKGROUND AND OBJECTIVES: Werdnig-Hoffmann Disease is the most common cause of hypotonia in infants and its prognosis is worse if it is present shortly after delivery. Symmetrical muscular weakness, areflexia, and fasciculations of the tongue are characteristic. The majority of the infants die before two years of age as a consequence of respiratory failure. The present report presents a case in which total intravenous anesthesia was used. CASE REPORT: This is a 1 year old white female weighing 10 kg, physical status ASA III, with Werdnig-Hoffmann Disease diagnosed at two months of age. The patient was a candidate for open gastrostomy, fundus gastroplication, and tracheostomy. After venoclysis, the patient was monitored with cardioscope, non-invasive blood pressure, pulse oximeter, precordial stethoscope, and rectal temperature. She was oxygenated and, after bolus administration of atropine (0.3 mg), boluses of remifentanil (20 µg) and propofol (30 mg) were administered for anesthetic induction. After tracheal intubation, she was ventilated with manual controlled system without CO2 absorber, Baraka (Mapleson D system), FGF of 4 L.min-1, and FiO2 0.5 (O2/N2O). Anesthesia was maintained with continuous manual infusion of propofol, 250 µg.kg-1.min-1, and remifentanil, 0.3 µg.kg-1.min-1. The surgery lasted 150 minutes. The patient regained consciousness 8 minutes after the end of the infusion, ventilating spontaneously. Two hours later, she was transferred to the pediatric unit, being discharged from the hospital on the fourth postoperative day. CONCLUSIONS: The choice of anesthetic technique gives priority to the safety associated with the familiarity of handling available drugs. In children with neuromuscular Diseases, due to the extremely short duration, total intravenous anesthesia with remifentanil and propofol in infusion systems can have a favorable influence on Disease evolution.

  • Anestesia Venosa Total (AVT) em Lactente com Doença de Werdnig-Hoffmann. Relato de Caso * Total Intravenous Anesthesia (TIVA) in an Infant with Werdnig-Hoffmann Disease. Case Report
    2010
    Co-Authors: Informação Clínica, Marco Antonio, Cardoso De Resende, Elizabeth Vaz Da Silva, Osvaldo J. M. Nascimento, Alberto Esteves Gemal, Giseli Quintanilha, Eliana Maria Vasconcelos, Resende Mac
    Abstract:

    SUMMARY Resende MAC, Silva EV, Nascimento OJM, Gemal AE, Quintanilha G, Vasconcelos EM – Total Intravenous Anesthesia (TIVA) in an In-fant with Werdnig-Hoffmann Disease. Case Report. BACKGROUND AND OBJECTIVES: Werdnig-Hoffmann Disease is the most common cause of hypotonia in infants and its prognosis is worse if it is present shortly after delivery. Symmetrical muscular weakness, areflexia, and fasciculations of the tongue are character-istic. The majority of the infants die before two years of age as a con-sequence of respiratory failure. The present report presents a case in which total intravenous anesthesia was used. CASE REPORT: This is a 1 year old white female weighing 10 kg, physical status ASA III, with Werdnig-Hoffmann Disease diagnosed at two months of age. The patient was a candidate for open gas-trostomy, fundus gastroplication, and tracheostomy. After venoclysis, the patient was monitored with cardioscope, non-invasive blood pres-sure, pulse oximeter, precordial stethoscope, and rectal temperature. She was oxygenated and, after bolus administration of atropine (0.3 mg), boluses of remifentanil (20 µg) and propofol (30 mg) were ad-ministered for anesthetic induction. After tracheal intubation, she was ventilated with manual controlled system without CO

  • anestesia venosa total avt em lactente com doenca de Werdnig Hoffmann relato de caso total intravenous anesthesia tiva in an infant with Werdnig Hoffmann Disease case report
    2010
    Co-Authors: Informação Clínica, Marco Antonio, Cardoso De Resende, Elizabeth Vaz Da Silva, Osvaldo J. M. Nascimento, Alberto Esteves Gemal, Giseli Quintanilha, Eliana Maria Vasconcelos, Resende Mac, Elielson Veloso Da Silva
    Abstract:

    SUMMARY Resende MAC, Silva EV, Nascimento OJM, Gemal AE, Quintanilha G, Vasconcelos EM – Total Intravenous Anesthesia (TIVA) in an In-fant with Werdnig-Hoffmann Disease. Case Report. BACKGROUND AND OBJECTIVES: Werdnig-Hoffmann Disease is the most common cause of hypotonia in infants and its prognosis is worse if it is present shortly after delivery. Symmetrical muscular weakness, areflexia, and fasciculations of the tongue are character-istic. The majority of the infants die before two years of age as a con-sequence of respiratory failure. The present report presents a case in which total intravenous anesthesia was used. CASE REPORT: This is a 1 year old white female weighing 10 kg, physical status ASA III, with Werdnig-Hoffmann Disease diagnosed at two months of age. The patient was a candidate for open gas-trostomy, fundus gastroplication, and tracheostomy. After venoclysis, the patient was monitored with cardioscope, non-invasive blood pres-sure, pulse oximeter, precordial stethoscope, and rectal temperature. She was oxygenated and, after bolus administration of atropine (0.3 mg), boluses of remifentanil (20 µg) and propofol (30 mg) were ad-ministered for anesthetic induction. After tracheal intubation, she was ventilated with manual controlled system without CO