scholarly journals Review of respiratory therapies in patients with spinal muscular atrophy

2018 ◽  
Vol 1 (1) ◽  
pp. 10-17
Author(s):  
V. Yu. Artemenko ◽  
E. V. Plotna
Keyword(s):  
Respiratory Failure ◽  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Sleep Disturbances ◽  
Muscular Atrophy ◽  
Neuromuscular Diseases ◽  
Respiratory Muscles ◽  
Autosomal Recessive Inheritance ◽  
Severe Form ◽  
State Of Rest

The purpose of this article was to systematize available literary data and to provide general recommendations for respiratory therapy in patients with spinal muscular atrophy. Spinal muscular atrophy (SMA) is a severe neuromuscular disease with autosomal recessive inheritance with degeneration of alpha motor neurons in the anterior horns of the spinal cord, leading to progressive proximal muscle weakness and paralysis. SMN 1–2 genes potentially encode identical proteins, although most of the transcripts of the SMN1 genes are halfsized, whereas most transcripts of the SMN2 genes do not contain the seventh exon. Therefore, the SMN2 gene is only partially functional, and a low-level SMN protein is produced in SMA patients. Moreover, the number of copies of the SMN2 can not be considered an exact predictive factor for any particular patient. The main causes of mortality and deterioration in the quality of life are the development of secondary respiratory failure. Type 1 (a, b, c) is the heaviest: early onset and lack of motor abilities, usually patients with a disease of this type survive no more than 2 years. Type 2 – an intermediate type characterized by a later onset, the patient may take a sedentary position, survival may reach the adult height. Type 3 is the softest form that manifests itself at the age of 1 year, the patient can walk and stand. The forecast is more favorable. Type 4 “adult form” manifests itself at the age from 10 to 20 or from 20 to 30 years and has a favorable outlook. The main causes of respiratory failure in patients with neuromuscular diseases are weakness of the respiratory muscles, unproductive cough and sleep disturbances. The weakness of the respiratory muscles, defined as the inability of resting respiratory muscles in the state of rest to create a normal level of pressure and air flow velocity when entering and exhaling, is common. Patients with neuromuscular diseases are susceptible to sleep disruption, especially in the REM sleep phase, with the most frequent form of this disorder being hypoventilation. Over time, hypoventilation in a dream can become more prolonged, resulting in the development of a severe form of hypoxia, an increase in the level of carbon dioxide in the blood and the suppression of the activity of the respiratory center. Thus, as a result of the review of literary data, a strategy of respiratory support in patients with CMA was proposed.

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 Spinal Muscle Atrophy: Clinical Cases

2021 ◽  
Vol 23 (2) ◽  
pp. 149-153
Author(s):  
Pamela Tainá Licoviski ◽  
Clara Victoria Bini ◽  
Alisson Grégori Turski ◽  
Greicy Kelly de Oliveira Bruno ◽  
Luana Cristina Borchardt ◽  
...  
Keyword(s):  
Physical Examination ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Neuromuscular Diseases ◽  
Respiratory Muscles ◽  
Lower Limbs ◽  
Respiratory Pattern ◽  
Type I ◽  
Clinical Case Study

AbstractSpinal muscular atrophy (EBF) is an autosomal recessive neuromuscular disease with genetic inheritance. EBF is classified into: type I - patients have symptoms up to 6 months of age; type II - after 6 months of age, symptoms begin; type III - it starts after 18 months of age. The objective of this study was to clinically characterize two brothers diagnosed with EBF. It is a clinical case study of two individuals, male gender, attended at Clínica Escola de Fisioterapia, at Universidade Estadual do Centro Oeste do Paraná- UNICENTRO, Campus CEDETEG. Selected by eligibility both were diagnosed with spinal muscular atrophy. The physiotherapy stages evaluation was carried out, which consist of anamnesis, functional examination, physical examination and respiratory evaluation. Patient 1, was diagnosed with EBF type IIIb at 16 years old, with reports of falls and weakness mainly in lower limbs, in the evaluation positive Gowers sign, anserine gait, hypotonic, MMSS areflexia and lower limb hyporeflexia, breathing pattern apical were found. Patient 2 was diagnosed with EBF type IIIa at 1 year of age, currently using a wheelchair for locomotion, on physical examination he had scoliosis with right convexity, deformities in the costal grid, decreased muscle strength in the upper limbs and lower limbs, mixed respiratory pattern. From the physical therapy evaluation performed on these patients, it could be noted that the weakness of the respiratory muscles is directly related to the clinical sign presented by both. Keywords: Physiotherapy Specialty. Neuromuscular Diseases. Spinal Muscular Atrophy. ResumoA atrofia muscular espinhal (AME) é uma doença neuromuscular autossômica recessiva com herança genética. A AME é classificada em: tipo I – pacientes apresentam sintomas até 6 meses de idade; tipo II – após os 6 meses de idade inicia-se os sintomas; tipo III – inicia-se após 18 meses de idade. O objetivo desse trabalho foi caracterizar clinicamente dois irmãos com diagnóstico de AME. É um estudo de casos clínicos de dois indivíduos, do gênero masculino, atendidos na Clínica Escola de Fisioterapia, da Universidade Estadual do Centro Oeste do Paraná – UNICENTRO, Campus CEDETEG. Selecionados por elegibilidade ambos diagnosticados com atrofia muscular espinhal. Foram realizadas as etapas da avaliação fisioterapêutica que consistem em anamnese, exame funcional, exame físico e avaliação respiratória. O paciente 1, foi diagnosticado com AME tipo IIIb aos 16 anos, com relatos de quedas e fraqueza principalmente em MMII, na avaliação constatou-se, sinal de Gowers positivo, marcha anserina, hipotônico, arreflexia de MMSS e hiporeflexia de MMII, padrão respiratório apical. O paciente 2 recebeu o diagnóstico de AME tipo IIIa com 01 ano de idade, atualmente utiliza cadeira de rodas para locomoção, no exame físico apresenta escoliose com convexidade a direita, deformidades no gradil costal, força muscular diminuída em MMSS e MMII, padrão respiratório misto. A partir da avaliação fisioterapêutica realizada nesses pacientes, pode-se notar que a fraqueza dos músculos respiratórios está diretamente relacionada com o quadro clinico apresentado por ambos. Palavras-chave: Fisioterapia. Doenças Neuromusculares. Atrofia Muscular Espinhal.

Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1

2006 ◽  
Vol 32 (11) ◽  
pp. 1851-1855 ◽  
Author(s):  
Alberto Giannini ◽  
Anna Maria Pinto ◽  
Giordano Rossetti ◽  
Edi Prandi ◽  
Danilo Tiziano ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Respiratory Distress ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy

scholarly journals AN AYURVEDIC MANAGEMENT OF SPINAL MUSCULAR ATROPHY (SMA) – A CASE STUDY

2021 ◽  
Vol 9 (11) ◽  
pp. 2897-2902
Author(s):  
Raheena B ◽  
Shaila Borannavar ◽  
Ananta S Desai
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Autosomal Recessive ◽  
Muscular Atrophy ◽  
Genetic Disorder ◽  
The Body ◽  
Erect Posture ◽  
Smn1 Gene ◽  
Autosomal Recessive Pattern

Spinal Muscular Atrophy (SMA) is the second leading genetic disorder inherited in the autosomal recessive pattern due to the absence of the SMN1 gene characterized by loss of motor neurons and progressive muscle wasting, often leading to dependent life and decreased life span. In Ayurveda, this condition can be considered as Kulaja Vyadhi wherein the patient’s Mamsa and Snayu is affected by Vata. This can be regarded as Mamsa-Snayugata Sarvanga Vata. It is said that Prakruta Vata dosha is the life, it is the strength, it is the sustainer of the body, it holds the body and life together. If it is Vikruta it produces Sankocha, Khanja, Kubjatva, Pangutva, Khalli and Soshana of Anga. So, in this disease aggravated Vata does the vitiation of Mamsa and Snayu thus leading to Soshana of both, resulting in Stambha, Nischalikarana of Avayava. A 21years female patient was admitted to our I.P.D with c/o of reduced strength in all four limbs leading to the inability to walk and to maintain erect posture during standing and sitting positions. Based on Ayurvedic principles the patient was initially subjected to Avaranahara Chikitsa followed by Brimhana line of management. Keywords: Mamsagata vata, Snayugata vata, Sarvanga vata, Spinal muscular atrophy (SMA)

scholarly journals Multifaceted roles of microRNAs: From motor neuron generation in embryos to degeneration in spinal muscular atrophy

eLife ◽  
2019 ◽  
Vol 8 ◽  
Author(s):  
Tai-Heng Chen ◽  
Jun-An Chen
Keyword(s):  
Nervous System ◽  
Neurodegenerative Diseases ◽  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Cell Types ◽  
Spinal Motor Neurons ◽  
Potential Applications ◽  
The Central Nervous System

Two crucial questions in neuroscience are how neurons establish individual identity in the developing nervous system and why only specific neuron subtypes are vulnerable to neurodegenerative diseases. In the central nervous system, spinal motor neurons serve as one of the best-characterized cell types for addressing these two questions. In this review, we dissect these questions by evaluating the emerging role of regulatory microRNAs in motor neuron generation in developing embryos and their potential contributions to neurodegenerative diseases such as spinal muscular atrophy (SMA). Given recent promising results from novel microRNA-based medicines, we discuss the potential applications of microRNAs for clinical assessments of SMA disease progression and treatment.

scholarly journals Green kiwifruit extracts protect motor neurons from death in a spinal muscular atrophy model in Caenorhabditis elegans

2019 ◽  
Vol 7 (7) ◽  
pp. 2327-2335
Author(s):  
Nadia Mazzarella ◽  
Ivana Giangrieco ◽  
Serena Visone ◽  
Pamela Santonicola ◽  
Jannis Achenbach ◽  
...  
Keyword(s):  
Caenorhabditis Elegans ◽  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Green Kiwifruit

scholarly journals Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy

2016 ◽  
Vol 10 ◽  
pp. JEN.S33122 ◽  
Author(s):  
Saif Ahmad ◽  
Kanchan Bhatia ◽  
Annapoorna Kannan ◽  
Laxman Gangwani
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Motor Neurons ◽  
Molecular Mechanisms ◽  
Muscular Atrophy ◽  
Survival Motor Neuron ◽  
Skeletal Muscle Atrophy ◽  
Spinal Motor Neurons ◽  
Low Levels ◽  
Smn Protein

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease with a high incidence and is the most common genetic cause of infant mortality. SMA is primarily characterized by degeneration of the spinal motor neurons that leads to skeletal muscle atrophy followed by symmetric limb paralysis, respiratory failure, and death. In humans, mutation of the Survival Motor Neuron 1 (SMN1) gene shifts the load of expression of SMN protein to the SMN2 gene that produces low levels of full-length SMN protein because of alternative splicing, which are sufficient for embryonic development and survival but result in SMA. The molecular mechanisms of the (a) regulation of SMN gene expression and (b) degeneration of motor neurons caused by low levels of SMN are unclear. However, some progress has been made in recent years that have provided new insights into understanding of the cellular and molecular basis of SMA pathogenesis. In this review, we have briefly summarized recent advances toward understanding of the molecular mechanisms of regulation of SMN levels and signaling mechanisms that mediate neurodegeneration in SMA.

scholarly journals A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy

2011 ◽  
Vol 32 (1) ◽  
pp. 126-138 ◽  
Author(s):  
M. Ruggiu ◽  
V. L. McGovern ◽  
F. Lotti ◽  
L. Saieva ◽  
D. K. Li ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Selective Vulnerability

scholarly journals The Survival of Motor Neurons Protein Determines the Capacity for snRNP Assembly: Biochemical Deficiency in Spinal Muscular Atrophy

2005 ◽  
Vol 25 (13) ◽  
pp. 5543-5551 ◽  
Author(s):  
Lili Wan ◽  
Daniel J. Battle ◽  
Jeongsik Yong ◽  
Amelie K. Gubitz ◽  
Stephen J. Kolb ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Protein Levels ◽  
Small Nuclear Ribonucleoprotein ◽  
Cell Extracts ◽  
Smn Complex ◽  
Survival Of Motor Neurons ◽  
Smn Protein ◽  
Nuclear Ribonucleoprotein

ABSTRACT Reduction of the survival of motor neurons (SMN) protein levels causes the motor neuron degenerative disease spinal muscular atrophy, the severity of which correlates with the extent of reduction in SMN. SMN, together with Gemins 2 to 7, forms a complex that functions in the assembly of small nuclear ribonucleoprotein particles (snRNPs). Complete depletion of the SMN complex from cell extracts abolishes snRNP assembly, the formation of heptameric Sm cores on snRNAs. However, what effect, if any, reduction of SMN protein levels, as occurs in spinal muscular atrophy patients, has on the capacity of cells to produce snRNPs is not known. To address this, we developed a sensitive and quantitative assay for snRNP assembly, the formation of high-salt- and heparin-resistant stable Sm cores, that is strictly dependent on the SMN complex. We show that the extent of Sm core assembly is directly proportional to the amount of SMN protein in cell extracts. Consistent with this, pulse-labeling experiments demonstrate a significant reduction in the rate of snRNP biogenesis in low-SMN cells. Furthermore, extracts of cells from spinal muscular atrophy patients have a lower capacity for snRNP assembly that corresponds directly to the reduced amount of SMN. Thus, SMN determines the capacity for snRNP biogenesis, and our findings provide evidence for a measurable deficiency in a biochemical activity in cells from patients with spinal muscular atrophy.

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