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Arch Pediatr 2020 Dec;27(7S):7S23-7S28

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. Read More

Acta Neuropathol Commun 2020 11 9;8(1):188. Epub 2020 Nov 9.

Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Canada.

Spinal muscular atrophy (SMA) is largely linked to deletion or mutation of the Survival motor neuron 1 (SMN1) gene located on chromosome 5q13. Type III (Kugelberg-Welander disease) is the mildest childhood form and patients may become ambulatory and have a normal life expectancy. We report the clinical history and morphological findings of a 55-year-old woman who began to experience motor problems at the age of two. Read More

Eur Heart J 2020 07;41(28):2716

Department of Cardiology, University Hospital Zurich, University of Zurich, Raemistrasse 100, 8091 Zurich, Switzerland.

Am J Case Rep 2019 Apr 3;20:441-446. Epub 2019 Apr 3.

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. Read More

Cochrane Database Syst Rev 2019 Mar 1;3:CD012120. Epub 2019 Mar 1.

Child Development and Exercise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Lundlaan 6, Utrecht, Utrecht, Netherlands, 3508 AB.

Background: Physical exercise training might improve muscle and cardiorespiratory function in spinal muscular atrophy (SMA). Optimization of aerobic capacity or other resources in residual muscle tissue through exercise may counteract the muscle deterioration that occurs secondary to motor neuron loss and inactivity in SMA. There is currently no evidence synthesis available on physical exercise training in people with SMA type 3. Read More

Methods Mol Biol 2018 ;1828:57-68

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. Read More

Handb Clin Neurol 2018 ;148:591-601

Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States. Electronic address:

Autosomal-recessive proximal spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with the number of copies of a nearly identical gene, SMN2. The SMN protein plays a critical role in spliceosome assembly and may have other cellular functions, such as mRNA transport. Cell culture and animal models have helped to define the disease mechanism and to identify targets for therapeutic intervention. Read More

Orphanet J Rare Dis 2017 04 11;12(1):67. Epub 2017 Apr 11.

Department of Neurology and Neurosurgery, F02.230, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.

Background: Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN gene (SMN2) in the human genome ensures production of residual levels of the ubiquitously expressed SMN protein. Alpha-motor neurons in the ventral horns of the spinal cord are most vulnerable to reduced SMN concentrations but the development or function of other tissues may also be affected, and cardiovascular abnormalities have frequently been reported both in patients and SMA mouse models. Read More

Pediatr Clin North Am 2015 Jun 11;62(3):743-66. Epub 2015 Apr 11.

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. Read More

Eur J Anaesthesiol 2015 Mar;32(3):211-3

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.

Masui 2013 Jun;62(6):702-4

Department of Anesthesiology, Yao Municipal Hospital, Yao 581-0069.

We report a 61-year-old woman (weight 49 kg, height 156 cm) with Kugelberg-Welander disease who was scheduled for bilateral mastectomy under general anesthesia. We administered rocuronium 10 mg (0.20 mg x kg(-1)) for tracheal intubation. Read More

J Neurodegener Dis 2013 24;2013:903875. Epub 2013 Mar 24.

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). Read More

J Anesth 2012 Apr 25;26(2):306-7. Epub 2011 Dec 25.

J Neurosurg Anesthesiol 2011 Apr;23(2):170-1

Rev Med Inst Mex Seguro Soc 2010 May-Jun;48(3):317-9

Instituto Mexicano del Seguro Social, Mexicali, Baja California, Mexico.

Spinal muscular atrophy (SMA) is an autonomic recessive disorder that affects the anterior horn cells of the spinal cord, degeneration of which results in proximal muscle weakness. It is classified into three types: I and II (Werdnig-Hoffmann disease) and III (Kugelberg-Welander disease). With an incidence of 1/10,000. Read More

Hum Mol Genet 2010 Nov 12;19(21):4239-52. Epub 2010 Aug 12.

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. Read More

J Cardiovasc Electrophysiol 2009 Mar 13;20(3):342-4. Epub 2008 Oct 13.

Heart Rhythm Management Center, UZ Brussel, Vrije Universiteit Brussel, Brussels, Belgium.

We present a case of a 43-year-old male patient with adult onset of spinal muscular atrophy (SMA). The patient first came to our attention with atrioventricular (AV) block. A dual-chamber pacemaker (DDD-PM) was implanted. Read More

Rev Esp Anestesiol Reanim 2008 Aug-Sep;55(7):449-50

Neuropathology 2009 Feb 11;29(1):63-7. Epub 2008 Apr 11.

Department of Neurology, Suzuka National Hospital, Suzuka-shi, Mie, Japan.

We report an autopsy case of a 67-year-old man clinicogenetically diagnosed as having spinal muscular atrophy (SMA) type III (Kugelberg-Welander disease), showing slowly progressive muscle wasting and weakness of the extremities. His brother showed similar manifestations. Autopsy revealed neuronal loss and severe gliosis in the anterior horns of the spinal cord, a marked neurogenic change of skeletal muscles and mild degeneration of cardiomyocytes. Read More

Masui 2008 Mar;57(3):358-9

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. Read More

Am J Med Sci 2006 Dec;332(6):354-6

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. Read More

Neuromuscul Disord 2006 Aug 22;16(8):492-4. Epub 2006 Jun 22.

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). Read More

Neth J Med 2005 Jun;63(6):227-9

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. Read More

Pediatr Med Chir 2004 Mar-Apr;26(2):139-41

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. Read More

Can J Neurol Sci 2004 Nov;31(4):530-8

Intern Med 2004 Oct;43(10):951-4

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. Read More

Int J Obstet Anesth 2004 Jul;13(3):192-5

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. Read More

Anaesth Intensive Care 2003 Feb;31(1):92-4

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. Read More