Spinal Muscular Atrophy

Oskoui, Maryam; Kaufmann, Petra

doi:10.1016/j.nurt.2008.08.007

Cited by 57 publications

(75 citation statements)

References 74 publications

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“…23 On the other hand, the SMN protein is also found postsynaptically at the neuromuscular junction and in the Z bands of striated muscle, indicating that pathogenesis does not exclusively involve the motor neuron cell body, but can also affect the muscle fibers themselves. 24 Spinal muscular atrophy -Baioni MT & Ambiel CR SMA = spinal muscular atrophy; SMN = survival motor neuron. …”

Section: Mrna (Messenger Ribonucleic Acid) Furthermore It Appearsmentioning

confidence: 99%

“…24 Care covers respiratory and nutritional support in addition to orthopedic and physiotherapeutic care, to avert postural problems.…”

Section: Supportive Therapiesmentioning

confidence: 99%

“…24 Additionally, these children may suffer from nocturnal hypoventilation and underdevelopment of the lungs and chest wall. 8,24 Provision for these patients includes rapid access to special clinical intervention and respiratory support when necessary (ranging from noninvasive ventilation to tracheostomy and mechanical ventilation). Techniques for cleaning the Airways and moving secretions are very useful, including pulmonary physiotherapy and postural drainage.…”

Section: A) Respiratory Carementioning

confidence: 99%

“…8,24,34 Both atrophy and hypotonia of the muscles have a direct influence on the degree of compromise to respiratory and motor function. In these situations it is the physiotherapist who works to prevent and treat bone deformities and respiratory disorders, contributing to preventing the disease from progressing and to improving patients' quality of life.…”

Section: A) Respiratory Carementioning

confidence: 99%

“…8,24 Reflux is a determinant of mortality and morbidity, because it can be associated with silent aspiration, which can lead to aspiration pneumonia, worsening the situation even further. High fat foods should be avoided because they delay gastric emptying and increase the risk that reflux will occur.…”

Section: B) Nutritional Carementioning

confidence: 99%

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Atrofia muscular espinhal: diagnóstico, tratamento e perspectivas futuras

Baioni¹,

Ambiel²

2010

J. Pediatr. (Rio J.)

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Objective: To report on recent genetic and molecular discoveries and on future prospects for the treatment of spinal muscular atrophy (SMA), thereby helping healthcare professionals to make a quick diagnosis and provide appropriate and timely therapeutic support.Sources: Information was collected from scientific articles published in the last 2 decades, retrieved from the databases SciELO, PubMed, and MEDLINE. Summary of the findings:SMA is a neurodegenerative disorder with autosomal recessive genetic heredity. It is caused by a homozygous deletion of the survival motor neuron (SMN 1 ) gene. This genetic alteration results in reduced levels of the SMN protein, leading to degeneration of alpha motor neurons of the spinal cord and resulting in muscle weakness and progressive symmetrical proximal paralysis. It is known that basic nutritional and respiratory care and physiotherapy can be important to delaying disease progression and prolonging patients' lives. Several drugs are being tested, some new, others, such as valproic acid, already known; paralysis can be halted, but not reversed. Conclusions:SMA is a difficult to diagnose disorder, because it is little known, and treatment is uncertain. Pharmacological treatments and supportive therapies are not yet able to recover motor neurons or muscle cells that have already been lost, but are aimed at delaying disease progression and improving patients' residual muscle function, as well as offering better quality of life and life expectancy.

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Section: Mrna (Messenger Ribonucleic Acid) Furthermore It Appearsmentioning

confidence: 99%

“…24 Care covers respiratory and nutritional support in addition to orthopedic and physiotherapeutic care, to avert postural problems.…”

Section: Supportive Therapiesmentioning

confidence: 99%

Section: A) Respiratory Carementioning

confidence: 99%

Section: A) Respiratory Carementioning

confidence: 99%

Section: B) Nutritional Carementioning

confidence: 99%

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Atrofia muscular espinhal: diagnóstico, tratamento e perspectivas futuras

Baioni¹,

Ambiel²

2010

J. Pediatr. (Rio J.)

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Viral mediated knockdown of GATA6 in SMA iPSC‐derived astrocytes prevents motor neuron loss and microglial activation

Allison

Welby

Khayrullina

et al. 2022

Glia

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Spinal muscular atrophy (SMA), a pediatric genetic disorder, is characterized by the profound loss of spinal cord motor neurons and subsequent muscle atrophy and death. Although the mechanisms underlying motor neuron loss are not entirely clear, data from our work and others support the idea that glial cells contribute to disease pathology. GATA6, a transcription factor that we have previously shown to be upregulated in SMA astrocytes, is negatively regulated by SMN (survival motor neuron) and can increase the expression of inflammatory regulator NFκB. In this study,

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Resistance strength training exercise in children with spinal muscular atrophy

et al. 2015

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Introduction Preliminary evidence in adults with spinal muscular atrophy (SMA) and in SMA animal models suggests exercise has potential benefits in improving or stabilizing muscle strength and motor function. Methods We evaluated feasibility, safety, and effects on strength and motor function of a home-based, supervised progressive resistance strength training exercise program in children with SMA types II and III. Up to 14 bilateral proximal muscles were exercised 3 times weekly for 12 weeks. Results Nine children with SMA, aged 10.4±3.8 years, completed the resistance training exercise program. Ninety percent of visits occurred per protocol. Training sessions were pain-free (99.8%), and no study-related adverse events occurred. Trends in improved strength and motor function were observed. Conclusions A 12-week supervised, home-based, 3 days/week progressive resistance training exercise program is feasible, safe, and well tolerated in children with SMA. These findings can inform future studies of exercise in SMA.

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Spinal Muscular Atrophy

Cited by 57 publications

References 74 publications

Atrofia muscular espinhal: diagnóstico, tratamento e perspectivas futuras

Atrofia muscular espinhal: diagnóstico, tratamento e perspectivas futuras

Viral mediated knockdown of GATA6 in SMA iPSC‐derived astrocytes prevents motor neuron loss and microglial activation

Resistance strength training exercise in children with spinal muscular atrophy

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