159 results match your criteria: "Kugelberg Welander Spinal Muscular Atrophy"
Masui
March 2008
Department of Anesthesiology, Fukuoka University School of Medicine, Fukuoka 814-0180.
We report a 38-year-old man with Kugelberg-Welander disease who underwent triple arthrodesis for talipes equinovarus under combined spinal-epidural anesthesia supplemented with continuous intravenous infusion of propofol. There was no ventilatory disturbance, muscle weakness, or neurologic untoward event during perioperative period.
View Article and Find Full Text PDFAm J Med Sci
December 2006
Division of Cardiovascular Medicine, Department of Internal Medicine, Shimane University School of Medicine, Izumo City, Shimane, Japan.
There are few reports of cardiac involvement in patients with Kugelberg-Welander disease. We report a case of a 51-year-old man with Kugelberg-Welander disease who presented with syncope. His electrocardiogram showed complete right bundle branch block and transient complete atrioventricular block without escape rhythm.
View Article and Find Full Text PDFNeuromuscul Disord
August 2006
Department of Neurology, Children's Hospital Boston and Harvard Medical School, Fegan 11, 300 Longwood Avenue, Boston, MA 02115, USA.
Spinal muscular atrophy type III (SMA III, Kugelberg-Welander disease) typically presents with symmetric proximal weakness, areflexia, and hypotonia. We present four children with spinal muscular atrophy type III who had atypical phenotypes. Three patients clearly had asymmetric weakness at presentation and two had upper motor neuron signs in the lower extremities (one patient had both features).
View Article and Find Full Text PDFArq Neuropsiquiatr
June 2005
Department of Internal Medicine, Neuromuscular Service, Clinical Hospital, Universidade Federal do Paraná, Curitiba PR, Brazil.
We described a patient with clinical findings from Kennedy's disease and positive genetic study for Kugelberg-Welander's disease. A 24 years old man with negative family history presented with progressive spinal and bulbar muscular atrophy and gynecomastia at the age of 14. He was clinically diagnosed as having Kennedy's disease.
View Article and Find Full Text PDFNeth J Med
June 2005
Department of Intensive Care, Alkmaar Medical Centre, Alkmaar, The Netherlands.
Moraxella catarrhalis rarely causes severe infections or bacteraemia in healthy subjects. In the literature only four cases of clinical sepsis with M. catarrhalis have been described, mostly in immunocompromised patients.
View Article and Find Full Text PDFPediatr Med Chir
March 2005
Dipartimento di Pediatria,Azienda Gravina, Caltagirone (CT).
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease characterized by diffuse proximal and distal weakness due to deletions of the survival motor neuron (SMN) gene localised on chromosome 5q13. Pathological studies show decreased numbers of motorneurons in spinal cord. SMA was initially sub-classified clinically into three types base on age at onset and clinical course.
View Article and Find Full Text PDFIntern Med
October 2004
Department of Internal Medicine, Suzuka National Hospital, 3-2-1 Kasado, Suzuka, Mie 513-8501.
A rare complication of possible secondary dilated cardiomyopathy to Kugelberg-Welander disease was described in a 53-year-old patient with this inherent motor neuron disease, whom we diagnosed after a genetic analysis of the defective survival motor neuron gene. An association of sleep disordered breathing of Cheyne-Stokes respiration was diagnosed, which was virtually eliminated with continuous positive airway pressure via nasal mask. Considering the paucity of therapeutic options in most degenerative neuromuscular disorders, ameliorations in not only sleep quality but also cardiac function with continuous positive airway pressure have clinical implications.
View Article and Find Full Text PDFInt J Obstet Anesth
July 2004
Department of Anaesthesia, Essex Rivers Healthcare Trust, Colchester General Hospital, Colchester, UK.
We describe the conduct of general anaesthesia for a patient with spinal muscular atrophy Type III (Kugelberg-Welander disease) undergoing elective caesarean section. Apart from a delayed return of skeletal muscle power following non-depolarising neuromuscular blockade the procedure was uneventful. We found no previously published reports of general anaesthesia for caesarean section in this condition in the English language literature.
View Article and Find Full Text PDFAnaesth Intensive Care
February 2003
Department of Anaesthesia, The Royal Women's Hospital, Melbourne, 132 Grattan Street, Carlton, Vic. 3053.
This report describes a 33-year-old primigravid woman with spinal muscular atrophy Type III (Kugelberg-Welander syndrome). Elective caesarean section was performed at 38 weeks gestation under spinal anaesthesia. The implications of spinal muscular atrophy for anaesthesia for caesarean section are described.
View Article and Find Full Text PDFPrzegl Lek
June 2002
Klinika Neurologii Dzieciecej Wydziału Lekarskiego Collegium Medicum Uniwersytetu Jagiellońskiego, ul. Wielicka 265, 30-663 Kraków.
Progress of diagnostic methods in recognition of spinal muscular atrophy (SMA), the most common degenerative disease of the nervous system in children has been observed in the last years. It has been proved, that all types of SMA, phenotypically variable Werdnig-Hoffman and Kugelberg-Welander diseases are results of homozygous absence of the telomeric copy of SMN gene located on the long arm of chromosome 5; this discovery was very important for mechanisms investigation. Based on the evolution of SMA diagnostic, the results of diagnostic in 18 children hospitalized in the Department of Pediatric Neurology Collegium Medicum of Jagiellonian University are presented.
View Article and Find Full Text PDFLeuk Lymphoma
July 2001
Division of Haematology and Medical Oncology, Peter MacCallum Cancer Institute, Melbourne, Victoria, Australia.
A case of nephrotic syndrome due to minimal change glomerulonephritis complicating Hodgkin's disease in a man with a longstanding neurological disorder is presented. Treatment with combination chemotherapy resulted in a rapid improvement in the nephrotic syndrome, and complete remission of the Hodgkin's disease. Disease relapse occurred less than 12 months later without recurrence of the nephrotic syndrome and was refractory to further treatment.
View Article and Find Full Text PDFBrain Pathol
April 2001
Department of Medical Physiology, University of Copenhagen, Denmark.
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease caused by homozygous deletions or mutations in the SMN1 gene on Chr.5q13. SMA spans from severe Werdnig-Hoffmann disease (SMA 1) to relatively benign Kugelberg-Welander disease (SMA 3).
View Article and Find Full Text PDFNeurologia
November 2000
Servicio de Genética, Hospital de la Santa Creu i Sant Pau, Barcelona.
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration and loss of motor neurons of the anterior horn of the spinal cord. The clinical manifestations include proximal symmetric weakness and progressive atrophy of muscle. SMA is classified by age of onset, severity of symptoms, and evolution in three groups: type I, severe or Werdnig-Hoffmann disease, type II or intermediate and type III, moderate-mild, Kugelberg-Welander disease.
View Article and Find Full Text PDFRyoikibetsu Shokogun Shirizu
October 1999
Department of Pediatrics, Tokyo Women's Medical University.
Neurol India
January 1997
Department of Neurology and Neurosurgery, Madurai Medical College and Govt. Rajiv Hospital, Madurai - 625 020, Tamilnadu, India.
Ehlers-Danlos Syndrome (EDS) is a group of heritable connective tissue disorders characterised by hyperelasticity of the skin and hypermobile joints. In addition to those features it is often associated with many systemic complications. Though many neurological complications have been described, an association of spinal muscular atrophy (SMA) has not been reported.
View Article and Find Full Text PDFNat Genet
July 1997
Unité de Recherches sur les Handicaps Génétiques de L'Enfant, INSERM, Unité 393, IFREM, Institut Necker, Hôpital des Enfants Malades, Paris, France.
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of motor neurons of the spinal cord. Three different forms of childhood SMA have been recognized on the basis of age at onset and clinical course: Werdnig-Hoffmann disease (type-1), the intermediate form (type-II) and Kugelberg-Welander disease (type-III). A gene termed 'survival of motor neuron' (SMN) has been recognized as the disease-causing gene in SMA.
View Article and Find Full Text PDFAnn Neurol
May 1997
Department of Human Genetics, Sackler Faculty of Medicine, Tel Aviv University, Israel.
Progressive proximal muscle weakness is present both in spinal muscular atrophy (SMA) type III (Kugelberg-Welander disease) and in GM2 gangliosidosis, diseases that segregate in an autosomal recessive fashion. The SMN gene for SMA and the HEXA gene for GM2 gangliosidosis were investigated in a woman with progressive proximal muscle weakness, long believed to be SMA type III (Kugelberg-Welander type). She and her family underwent biochemical studies for GM2 gangliosidosis.
View Article and Find Full Text PDFRev Neurol (Paris)
March 1997
Service de Neurologie, CHU Bicêtre, Le Kremlin-Bicêtre.
GM2 gangliosidosis are caused by a beta-hexosaminidase A enzyme deficiency. Mutations in the gene leaving residual enzyme activity give rise to juvenile and adult forms of the disease which have a great clinical heterogeneity. We report three cases which have been considered for some time as Kugelberg-Welander disease.
View Article and Find Full Text PDFElectromyogr Clin Neurophysiol
December 1996
Department of Neurology, University Hospital Tzaritza Ioanna, Sofia.
The term limb girdle syndrome includes a variety of neuromuscular disorders like the scapulohumeral and pelvifemoral types of muscular dystrophy, quadriceps myopathy and Wohlfart-Kugelberg-Welander syndrome. There may be considerable difficulty in distinguishing between different types of limb girdle syndrome, even with the aid of electromyographic and muscle biopsy examinations. The aim of this investigation was to reestablish the clues for distinguishing between different types of limb girdle syndrome.
View Article and Find Full Text PDFArq Neuropsiquiatr
September 1996
Universidade Federal de São Paulo--Escola Paulista de Medicina (UNIFESP-EPM), Brasil.
We added hydrotherapy to 50 patients with spinal muscular atrophy (SMA) who were being treated with individual conventional physiotherapy. Hydrotherapy performed at an approximate temperature of 30 degrees Celsius, twice a week, for thirty minutes in children and forty-five minutes in adults during a 2-year period. The outcome derived from this combined modality of treatment was rated according to physiotherapeutic evaluations, the MMT (Manual Muscular Test), and the Barthel Ladder.
View Article and Find Full Text PDFSchweiz Med Wochenschr
May 1996
Institut für Medizinische Genetik, Universität Zürich.
Autosomal recessive spinal muscular atrophy (SMA) is, after cystic fibrosis, the second most common fatal monogenic disorder. The disease is characterized by degeneration of anterior horn cells leading to progressive paralysis with muscular atrophy. Depending on the clinical type (Werdnig-Hoffmann = type I, intermediate form = type II, Kugelberg-Welander = type III), SMA causes early death or increasing disability in childhood.
View Article and Find Full Text PDFArch Mal Coeur Vaiss
May 1996
Service de cardiologie infantile, Hôpital Roger Salengro, CHRU de Lille.
Kugelberg-Welander disease is a juvenile form of slowly progressive spiral amyotrophy in which the incidence of cardiac involvement is difficult to appreciate as cases are sporadic. Classically, it presents with atrial hyperexcitability with variable degrees of atrioventricular block. In order to assess the prevalence of cardiac involvement in this condition, the authors undertook a prospective study in 8 patients with Kugelberg-Welander disease.
View Article and Find Full Text PDFJ Med Genet
April 1996
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, IFREM, Institut Necker, Hôpital des Enfants-Malades, Paris, France.
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.
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