159 results match your criteria: "Kugelberg Welander Spinal Muscular Atrophy"
Glucose and Lipid Metabolism Disorders in Adults with Spinal Muscular Atrophy Type 3.
Diagnostics (Basel)
September 2024
Clinic for Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center of Serbia, 11000 Belgrade, Serbia.
Article Synopsis
- Spinal muscular atrophy type 3 (SMA3) is a genetic disease mainly affecting motor neurons, but recent findings show metabolic issues like fatty acid and glucose metabolism irregularities in patients.
- A study involving 23 adult SMA3 patients revealed that over 60% had lipid abnormalities, and a staggering 91.3% showed signs of insulin resistance, though none had full-blown diabetes.
- The results indicate a significant connection between muscle, liver, and fat tissue functioning in SMA3 patients, emphasizing the need for focused metabolic care to manage potential health risks as these individuals age.
[Experience of the treatment of spinal muscular atrophy type 3 Kugelberg-Welander with Nusinersen].
Zh Nevrol Psikhiatr Im S S Korsakova
April 2024
State Novosibirsk Regional Clinical Hospital, Novosibirsk, Russia.
Article Synopsis
- Before pathogenetic therapy, a diagnosis of spinal muscular atrophy (SMA) meant a grim outlook with inevitable decline and early death for patients.
- New therapies like nusinersen and risdiplam, along with onasemnogene abeparvovec, are now available in Russia, offering hope for SMA patients.
- Nusinersen works by modifying the splicing of genes to boost the production of a crucial protein for motor neuron survival, and the article highlights a successful case of long-term treatment in a patient with SMA type 3.
Spinal Muscular Atrophy With Severe Hyperlordosis: A Case Report.
Cureus
February 2024
Pediatrics and Neonatology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Article Synopsis
- Spinal muscular atrophy (SMA) is a rare inherited disorder that affects motor neurons in the brain and spinal cord, leading to muscle weakness and hypotonia, commonly in lower limbs.
- The first reported case of SMA associated with hyperlordosis—a spinal curvature deformity—was seen in an 11-year-old boy who struggled with mobility and displayed severe hyperlordosis and muscle weakness.
- The study emphasizes the patient's clinical presentation of SMA with hyperlordosis, but highlights the limited availability of affordable treatment options that prevent a complete cure or normal lifestyle.
Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease).
Arch Pediatr
December 2020
FILNEMUS; Unité Neuromusculaire de l'Enfant, Service de Neurologie et Réanimation Pédiatrique, Hôpital Raymond Poincaré (GH APHP Université Paris Saclay), Garches, France; UMR 1179 Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologie appliquées (END-ICAP) - UMR U1179 (INSERM/UVSQ); Centre de Référence Nord-Est-Ile de France. Electronic address:
Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features.
View Article and Find Full Text PDFSpinal muscular atrophy type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings.
Acta Neuropathol Commun
November 2020
Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Canada.
Article Synopsis
- Spinal muscular atrophy (SMA) is primarily caused by issues with the SMN1 gene on chromosome 5q13, with Type III being a milder childhood variant that can allow for a normal life expectancy despite some motor difficulties.
- A case study details a 55-year-old woman who faced motor challenges from age two and experienced unexpected sensory issues in her mid-thirties, with her symptoms never clearly diagnosed during her lifetime.
- Autopsy results revealed classic signs of motor neuron degeneration and significant hemosiderin deposits in her spinal cord, providing insight into her sensory symptoms and linking them to both spinal cord abnormalities and the concept of duropathy.
Myocardial involvement in Kugelberg-Welander disease.
Eur Heart J
July 2020
Department of Cardiology, University Hospital Zurich, University of Zurich, Raemistrasse 100, 8091 Zurich, Switzerland.
Monitoring Kidney Dysfunction in Kugelberg-Welander Syndrome.
Am J Case Rep
April 2019
Kidney Transplant Program, St. Michael's Hospital, Toronto, Canada.
BACKGROUND Kugelberg-Welander (K-W) syndrome is a type of spinal muscular atrophy that causes weakness of the hip-girdle muscles. If severe enough, this weakness can confine patients to a wheelchair in adult life. Proteinuria, a manifestation of kidney dysfunction, is associated with disorders of many organ systems.
View Article and Find Full Text PDFPhysical exercise training for type 3 spinal muscular atrophy.
Cochrane Database Syst Rev
March 2019
Child Development and Exercise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, Utrecht, Netherlands, 3508 AB.
Article Synopsis
- The text discusses the potential benefits of physical exercise training for individuals with spinal muscular atrophy (SMA) type 3, focusing on improving muscle and cardiorespiratory function amid the muscle deterioration caused by motor neuron loss.
- The objectives were to evaluate how such exercise training influences functional performance and to identify any potential adverse effects.
- A single randomized controlled trial (RCT) lasting six months was included in the review, which examined a home-based combined strength and cycling program for 14 participants but raised concerns about bias due to the inability to blind personnel and participants to the intervention.
Recent Advances and Clinical Applications of Exon Inclusion for Spinal Muscular Atrophy.
Methods Mol Biol
April 2019
Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.
Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a mutation in SMN1 that stops production of SMN (survival of motor neuron) protein. Insufficient levels of SMN results in the loss of motor neurons, which causes muscle weakness, respiratory distress, and paralysis. A nearly identical gene (SMN2) contains a C-to-T transition which excludes exon 7 from 90% of the mature mRNA transcripts, leading to unstable proteins which are targeted for degradation.
View Article and Find Full Text PDFSpinal muscular atrophy.
Handb Clin Neurol
August 2018
Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States. Electronic address:
Article Synopsis
- - The autosomal-recessive proximal spinal muscular atrophy (SMA) is linked to mutations in the SMN1 gene and its severity is influenced by the number of SMN2 gene copies.
- - The SMN protein is crucial for spliceosome assembly and potentially other cellular functions, with research using cell cultures and animal models advancing understanding of the disease mechanisms.
- - Treatments aimed at increasing SMN protein levels have been developed, including the approved oligonucleotide nusinersen, with ongoing studies for other therapeutic agents.
Cardiac pathology in spinal muscular atrophy: a systematic review.
Orphanet J Rare Dis
April 2017
Department of Neurology and Neurosurgery, F02.230, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.
Article Synopsis
- Hereditary proximal spinal muscular atrophy (SMA) is a severe childhood condition caused by the loss of the SMN1 gene, impacting alpha-motor neurons and potentially affecting other body systems, including cardiovascular health.
- A systematic review of 72 studies on SMA patients and 14 mouse model studies revealed that structural heart defects are common in severely affected patients, while milder cases tend to show more rhythm disorders.
- Most studies lacked control groups and standardized evaluation methods, indicating a need for future research to better understand cardiac issues associated with SMA.
Spinal muscular atrophies.
Pediatr Clin North Am
June 2015
Division of Clinical Neurology, Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Fegan 11, Boston, MA 02115, USA. Electronic address:
Spinal muscular atrophies (SMAs) are hereditary degenerative disorders of lower motor neurons associated with progressive muscle weakness and atrophy. Proximal 5q SMA is caused by decreased levels of the survival of motor neuron (SMN) protein and is the most common genetic cause of infant mortality. Its inheritance pattern is autosomal recessive, resulting from mutations involving the SMN1 gene on chromosome 5q13.
View Article and Find Full Text PDFAnaesthesia and orphan disease: a patient with spinal muscular atrophy type III (Wohlfart-Kugelberg-Welander syndrome) undergoing laparoscopic cholecystectomy.
Eur J Anaesthesiol
March 2015
From the Department of Anesthesiology, Academic Medical Center (KEH), Department of Surgery (BJD), Department of Internal Medicine (MS), Department of Anaesthesiology, Slotervaart Hospital (AJP), Amsterdam, The Netherlands.
[General anesthetic management of a patient with spinal muscular atrophy type III].
Masui
June 2013
Department of Anesthesiology, Yao Municipal Hospital, Yao 581-0069.
Article Synopsis
- A 61-year-old woman with Kugelberg-Welander disease was scheduled for bilateral mastectomy and received rocuronium for muscle relaxation during intubation.
- After 80 minutes into the surgery, the neuromuscular block was still significantly present (TOFR of 46%), and no additional rocuronium was given during the procedure.
- Sugammadex was administered post-surgery to reverse the effects of rocuronium, resulting in a quick recovery of muscle function (TOFR over 90%) without any adverse effects like respiratory distress or muscle weakness.
Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy.
J Neurodegener Dis
August 2015
Service of Neurology CHU of Constantine, Algeria ; Laboratory of Biochemistry CHU of Constantine, Algeria.
Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disorder. It is divided into the acute Werdnig-Hoffmann disease (type I), the intermediate form (type II), the Kugelberg-Welander disease (type III), and the adult form (type IV). The gene involved in all four forms of SMA, the so-called survival motor neuron (SMN) gene, is duplicated, with a telomeric (tel SMN or SMN1) and a centromeric copy (cent SMN or SMN2).
View Article and Find Full Text PDF[Two cases of Werdnig-Hofmann disease].
Rev Med Inst Mex Seguro Soc
February 2011
Instituto Mexicano del Seguro Social, Mexicali, Baja California, Mexico.
Article Synopsis
- - Spinal muscular atrophy (SMA) is a genetic disorder that leads to muscle weakness due to the degeneration of nerve cells in the spinal cord, specifically affecting the anterior horn cells.
- - SMA is categorized into three types: I and II (Werdnig-Hoffmann disease) and III (Kugelberg-Welander disease), with an incidence rate of about 1 in 10,000 births.
- - The report discusses two infant cases diagnosed with SMA; one was identified through muscle biopsy, while the other was diagnosed using electromyography and chromosome studies, emphasizing the importance for physicians to be aware of SMA and its complications.
A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.
Hum Mol Genet
November 2010
Department of Pediatrics, The Research Institute at Nationwide Children's Hospital, Columbus, OH 43205, USA.
Proximal spinal muscular atrophy (SMA) is a neurodegenerative disease caused by low levels of the survival motor neuron (SMN) protein. In humans, SMN1 and SMN2 encode the SMN protein. In SMA patients, the SMN1 gene is lost and the remaining SMN2 gene only partially compensates.
View Article and Find Full Text PDFMalignant ventricular arrhythmia in a case of adult onset of spinal muscular atrophy (Kugelberg-Welander disease).
J Cardiovasc Electrophysiol
March 2009
Heart Rhythm Management Center, UZ Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
Article Synopsis
- - A 43-year-old male was diagnosed with adult-onset spinal muscular atrophy (SMA) after he presented with atrioventricular (AV) block, leading to the implantation of a dual-chamber pacemaker (DDD-PM).
- - Four years later, the pacemaker data revealed frequent episodes of nonsustained ventricular tachycardia (NSVT), which worsened over time and prompted further investigation.
- - An electrophysiological study confirmed prolongation of the His-ventricular (HV) interval and produced sustained ventricular tachycardia, resulting in the successful upgrade of his device to a dual-chamber cardioverter defibrillator, marking the first report of such serious arrhythmias in
An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease).
Neuropathology
February 2009
Department of Neurology, Suzuka National Hospital, Suzuka-shi, Mie, Japan.
Article Synopsis
- The autopsy detailed the case of a 67-year-old man diagnosed with spinal muscular atrophy (SMA) type III, characterized by slowly progressive muscle weakness and wasting in the extremities, similar to that of his brother's condition.
- Examination of the spinal cord revealed significant neuronal loss and gliosis in the anterior horns, atrophic spinal roots, and neurogenic changes in skeletal muscles, indicating severe degeneration.
- Pathological findings were similar to those seen in SMA type I, with prominent chronic changes and mild acute changes, reflecting the long duration of the man's clinical symptoms.