scholarly journals Using General Anesthesia plus Muscle Relaxant in a Patient with Spinal Muscular Atrophy Type IV: A Case Report

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Xiu-Fen Liu ◽  
Dong-Xin Wang ◽  
Daqing Ma
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscle Weakness ◽  
Motor Neurons ◽  
Genetic Disease ◽  
Muscular Atrophy ◽  
Anesthetic Management ◽  
Neuromuscular Blocking ◽  
Neuromuscular Blocking Agents ◽  
Spinal Muscular Atrophy Type ◽  
Type Iv

Spinal muscular atrophy (SMA) is a rare genetic disease characterized by degeneration of spinal cord motor neurons, which results in hypotonia and muscle weakness. Patients with type IV SMA often have onset of weakness from adulthood. Anesthetic management is often difficult in these patients as a result of muscle weakness and hypersensitivity to neuromuscular blocking agents as shown by (Lunn and Wang; 2008, Simic; 2008, and Cifuentes-Diaz et al.; 2002). Herein we report a case of anesthetic management of a patient with SMA type IV for mammectomy and review some other cases of SMA patients receiving different kinds of anesthesia.

scholarly journals Charcot-Marie-Tooth disease type 2S: Case report of a rare form associated with spinal muscular atrophy type IV

2021 ◽  
Vol 12 ◽  
pp. 1-6
Author(s):  
Marco Orsini ◽  
Acary Souza Bulle Oliveira ◽  
Antônio Marcos da Silva Catharino ◽  
Mauricio Sant’ Anna Junior ◽  
Felipe dos Santos Souza ◽  
...  
Keyword(s):  
Case Report ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Disease Type ◽  
Rare Form ◽  
Charcot Marie Tooth ◽  
Spinal Muscular Atrophy Type ◽  
Charcot Marie Tooth Disease ◽  
Type Iv ◽  
Tooth Disease

scholarly journals Spinal Muscular Atrophy Type 3: A Case Report

2020 ◽  
Vol 43 (3) ◽  
pp. 183-187
Author(s):  
Maria Kibtiar ◽  
Roksana Parvin ◽  
Manik Kumar Talukder ◽  
Choudhury Ali Kawser
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Neuromuscular Disorder ◽  
Proximal Muscle Weakness ◽  
Proximal Muscle ◽  
Spinal Muscular Atrophy Type ◽  
Genetically Determined ◽  
Type 3 ◽  
Tendon Reflexes

Spinal muscular atrophy (SMA) type 3 is a relatively stable genetically determined chronic neuromuscular disorder caused by degeneration of motor neurons of spinal cord. Patients with type 3 SMA may gradually experience decline in muscle strength and motor function. However functional progression is difficult to document and mechanisms remain poorly understood. A five years old boy presented with proximal muscle weakness, generalized hypotonia, absent deep tendon reflexes and features of neuropathy and labeled as SMA type 3. Bangladesh J Child Health 2019; VOL 43 (3) :183-187

Tracheotomy and children with spinal muscular atrophy type 1

2012 ◽  
Vol 19 (3) ◽  
pp. 408-418 ◽  
Author(s):  
Brigitte Rul ◽  
Franco Carnevale ◽  
Brigitte Estournet ◽  
Michèle Rudler ◽  
Christian Hervé
Keyword(s):  
Mechanical Ventilation ◽  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Severe Form ◽  
First Year ◽  
Spinal Muscular Atrophy Type ◽  
Intellectual Capacity ◽  
First Year Of Life

Spinal muscular atrophy (SMA) type 1 is a genetic neuromuscular disease in children that leads to degeneration of spinal cord motor neurons. This sometimes results in severe muscular paralysis requiring mechanical ventilation to sustain the child’s life. The onset of SMA type 1, the most severe form of the disease, is during the first year of life. These children become severely paralysed, but retain their intellectual capacity. Ethical concerns arise when mechanical ventilation becomes necessary for survival. When professionals assess the resulting life for the child and family, they sometimes fear it will result in unreasonably excessive care. The aim of this article is to present an analysis of ethical arguments that could support or oppose the provision of invasive ventilation in this population. This examination is particularly relevant as France is one of the few countries performing tracheotomies and mechanical ventilation for this condition.

scholarly journals Motor Neuron Degeneration in a 20-Week Male Fetus: Spinal Muscular Atrophy Type 0

2007 ◽  
Vol 34 (2) ◽  
pp. 215-220 ◽  
Author(s):  
Harvey B. Sarnat ◽  
Cynthia L. Trevenen
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Neuronal Degeneration ◽  
Muscular Atrophy ◽  
Incidental Finding ◽  
Neuron Specific Enolase ◽  
Nuclear Antigen ◽  
Cardiac Anomaly ◽  
Male Fetus ◽  
Spinal Muscular Atrophy Type

Background:Neuropathological changes in degenerating motor neurons are well documented in the term neonate with spinal muscular atrophy, but not at midgestation.Methods:Postmortem neuropathological examination was performed in a 20-week male fetus with a hypoplastic left cardiac anomaly.Results:Selective degeneration of spinal and hypoglossal motor neurons was an incidental finding. Degenerating motor neurons were not immunoreactive with neuronal nuclear antigen (NeuN) or neuron-specific enolase (NSE), as were the normal motor neurons. Synaptophysin reactivity was reduced around the soma of degenerating normal motor neurons. Ubiquitin and tau were expressed in degenerating motor neurons. Gliosis, inflammation and microglial activation were lacking in the ventral horns of the spinal cord. Laryngeal striated muscle was unaltered for age. No cerebral malformations or hypoxic-ischaemic changes were found.Conclusion:This case represents an early motor neuronal degeneration and corresponds to the recently described “type 0” spinal muscular atrophy. Lack of contractures is attributed to the early fetal age, since most muscular growth occurs in the second half of gestation.

scholarly journals Free-Aspire: A new device for the management of airways clearance in patient with ineffective cough

2017 ◽  
Vol 9 (3) ◽  
Author(s):  
Luca Bertelli ◽  
Giovanni Di Nardo ◽  
Salvatore Cazzato ◽  
Giampaolo Ricci ◽  
Andrea Pession
Keyword(s):  
Physical Examination ◽  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Neuromuscular Disorder ◽  
Type I ◽  
Spinal Muscular Atrophy Type ◽  
New Device ◽  
Breath Sounds ◽  
The Right

A 3-year-old girl with Spinal Muscular Atrophy type I presented with a right pneumonia. On physical examination pulmonary auscultation revealed an asymmetry of breath sounds between the 2 hemithoraces, owing to decreased breath sounds in the right hemithorax. Blood tests were normal. The initial working diagnosis was a suspected area of mucus accumulation. A treatment with Free Aspire was started. Within a few days, the girl was discharged with a normal physical examination and X-ray study result. Spinal Muscular Atrophy is a rare neuromuscular disorder characterized by loss of motor neurons and progressive muscle wasting. Cough in these patients result ineffective. Free-Aspire is an electromedical machine for removing bronchoalveolar secretions. The case show that Free Aspire in patients with ineffective cough and impaired removal of secretions is a safe and effective device for the removal of bronchial secretions and could be an another help in the management of airway clearance.

Compensatory mechanisms during walking in response to muscle weakness in spinal muscular atrophy, type III

2008 ◽  
Vol 27 (4) ◽  
pp. 661-668 ◽  
Author(s):  
Zlatko Matjačić ◽  
Andrej Olenšek ◽  
Janez Krajnik ◽  
Bruno Eymard ◽  
Anton Zupan ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscle Weakness ◽  
Muscular Atrophy ◽  
Compensatory Mechanisms ◽  
Spinal Muscular Atrophy Type ◽  
Type Iii

Anesthetic management of a parturient with spinal muscular atrophy type II

2012 ◽  
Vol 24 (7) ◽  
pp. 573-577 ◽  
Author(s):  
Giuseppe Maria Maruotti ◽  
Rita Anfora ◽  
Emilio Scanni ◽  
Marco Rispoli ◽  
Laura Letizia Mazzarelli ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Anesthetic Management ◽  
Type Ii ◽  
Spinal Muscular Atrophy Type

Neuroanatomical Models of Muscle Strength and Relationship to Ambulatory Function in Spinal Muscular Atrophy

2020 ◽  
Vol 7 (4) ◽  
pp. 459-466
Author(s):  
Rafael Rodriguez-Torres ◽  
Julia Fabiano ◽  
Ashley Goodwin ◽  
Ashwini K. Rao ◽  
Stacy Kinirons ◽  
...  
Keyword(s):  
Linear Regression ◽  
Spinal Muscular Atrophy ◽  
Muscle Weakness ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Pearson Correlation ◽  
Correlation Coefficients ◽  
Positive Association ◽  
Lower Lumbar ◽  
And Function

Background: Individuals with spinal muscular atrophy (SMA) III walk independently, but experience muscle weakness, gait impairments, and fatigue. Although SMA affects proximal more than distal muscles, the characteristic pattern of selective muscle weakness has not been explained. Two theories have been proposed: 1) location of spinal motor neurons; and 2) differences in segmental innervation. Objective: To identify neuroanatomical models that explain the selective muscle weakness in individuals with SMA and assess the relationship of these models to ambulatory function. Methods: Data from 23 ambulatory SMA participants (78.2% male), ages 10–56 years, enrolled in two clinical studies (NCT01166022, NCT02895789) were included. Strength was assessed using the Medical Research Council (MRC) score; ambulatory function was measured by distance walked on the 6-minute walk test (6 MWT). Three models were identified, and relationships assessed using Pearson correlation coefficients and linear regression. Results: All models demonstrated a positive association between strength and function, (p < 0.02). Linear regression revealed that Model 3B, consisting of muscles innervated by lower lumbar and sacral segments, explained 67% of the variability observed in 6 MWT performance (β= 0.670, p = 0.003). Conclusions: Muscles innervated by lower lumbar and sacral segments, i.e. hip extensors, hip abductors, knee flexors and ankle dorsiflexors, correlated with and predicted greater ambulatory function. The neuroanatomical patterns of muscle weakness may contribute to a better understanding of disease mechanisms and enable delivery of targeted therapies.

A 34-Year-Old Male with Possible Myopathic Process

2016 ◽  
Author(s):  
Jeffrey A. Cohen ◽  
Justin J. Mowchun ◽  
Victoria H. Lawson ◽  
Nathaniel M. Robbins
Keyword(s):  
Quality Of Life ◽  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Age At Onset ◽  
Homozygous Deletion ◽  
Adult Onset ◽  
Type Iv ◽  
Electrodiagnostic Study

Adult-onset spinal muscular atrophy (SMA type IV) presents in a manner similar to a myopathy. Normal CK and a neurogenic pattern of denervated changes on electrodiagnostic study suggest the actual diagnosis. The diagnosis of SMA is confirmed by the presence of a homozygous deletion or mutation of the SMN1 gene in most patients. Both the presence of SMN1 deletion/mutation and the effectiveness of rescue from a second copy of the gene, SMN2, determines the age at onset and severity of SMA. Differential includes other genetic conditions affecting motor neurons, postpolio syndrome, monomelic amyotrophy, and motor neuropathies/poly-radiculopathies. The management of SMA is predominantly supportive, but this can significantly impact quality of life.

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