Journal name: World Journal of Pharmaceutical Research
Original article title: Spinal muscular atrophy (sma)
The WJPR includes peer-reviewed publications such as scientific research papers, reports, review articles, company news, thesis reports and case studies in areas of Biology, Pharmaceutical industries and Chemical technology while incorporating ancient fields of knowledge such combining Ayurveda with scientific data.
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Subtitle: expeditious review on therapeutic management of sma
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Kirti Rani
World Journal of Pharmaceutical Research:
(An ISO 9001:2015 Certified International Journal)
Full text available for: Spinal muscular atrophy (sma)
Source type: An International Peer Reviewed Journal for Pharmaceutical and Medical and Scientific Research
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Summary of article contents:
Introduction
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that severely affects voluntary muscle movements due to a genetic defect in the SMN1 gene. This disorder primarily targets spinal cord motor neurons, leading to muscle weakness and atrophy, especially in infants. Affected individuals show no significant cognitive impairment, but the disease often results in progressive physical disabilities, respiratory issues, and premature death. Despite its severity, effective treatments remain limited, with current approaches focusing on palliative care and genetic counseling.
Genetic Basis and Mechanism of SMA
SMA is caused by mutations in the SMN1 gene located on chromosome 5, resulting in a deficiency of the SMN protein essential for motor neuron survival. While SMN1 mutations are the most common cause, a second gene, SMN2, can produce a shorter form of the SMN protein, which provides some functional ability. The severity of SMA symptoms correlates with the amount of functional SMN protein present; thus, the number of SMN2 gene copies can influence disease phenotype. Genetic testing is vital in identifying patients and carriers of SMA, facilitating early diagnosis and potential intervention strategies.
Symptoms and Types of SMA
SMA is classified into four main types based on the age of onset and severity of symptoms. Type 1 SMA typically manifests in infants, leading to significant motor impairment and respiratory challenges from an early age. Type 2 SMA appears later, generally allowing for a longer lifespan but still presents with significant physical limitations. Types 3 and 4 SMA involve milder symptoms that appear in later childhood or adulthood and often allow for greater independence. Across all types, loss of motor function affects proximal muscles first, with significant implications for activities of daily living.
Current and Future Therapeutic Approaches
Although there is no definitive cure for SMA, various therapeutic approaches are under investigation. Potential treatments include gene therapy aimed at boosting SMN protein production, small molecules that modify splicing patterns of SMN2, and regenerative approaches such as stem cell therapy. Drugs like aclarubicin and sodium butyrate have shown promise in research, potentially enhancing the expression of functional SMN protein. Current research also explores the use of existing medications like fasudil, which has been observed to extend lifespan in animal models with SMA-like conditions.
Conclusion
Understanding SMA's genetic and clinical dimensions is crucial for developing effective therapeutic strategies and improving patient outcomes. Early diagnosis through genetic testing and comprehensive screening programs can enhance risk assessment and facilitate timely intervention. While current treatments primarily focus on symptom management and supportive care, ongoing research holds promise for future therapies that may provide more robust treatment options for individuals affected by this challenging disorder.
FAQ section (important questions/answers):
What is spinal muscular atrophy (SMA) and its genetic cause?
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder affecting motor neurons in the spinal cord. It is primarily caused by defects in the SMN1 gene, which encodes a protein essential for the survival of motor neurons.
What are the common symptoms of spinal muscular atrophy (SMA)?
Common symptoms of SMA include progressive weakness in voluntary muscles, starting from the shoulders, hips, and thighs. As the disease progresses, respiratory and swallowing muscles can be gradually affected, but cognitive functions generally remain intact.
How is spinal muscular atrophy (SMA) diagnosed?
Diagnosis of SMA typically involves genetic testing and screening for mutations in the SMN1 gene. Additional tests may include biochemical testing and various forms of molecular diagnostics to ascertain disease severity and appropriate management strategies.
What treatment options are available for spinal muscular atrophy (SMA)?
Currently, there is no cure for SMA. Treatment mainly focuses on palliative care, genetic counseling, and potential drug therapies under investigation, such as those that aim to increase the levels of functional SMN protein.
What types of spinal muscular atrophy (SMA) are there?
SMA is classified into different types based on onset and severity, including type 1 (severe infantile) and type 2 (intermediate). These types vary in symptoms and progression, primarily influenced by the levels of SMN protein present.
What role does genetic counseling play for SMA families?
Genetic counseling for SMA families helps assess risks of hereditary transmission, provide emotional support, and educate patients about genetic testing options. It can guide families in making informed reproductive choices and managing the condition effectively.
Glossary definitions and references:
Scientific and Ayurvedic Glossary list for “Spinal muscular atrophy (sma)”. This list explains important keywords that occur in this article and links it to the glossary for a better understanding of that concept in the context of Ayurveda and other topics.
1) Rani:
Rani refers to the author of the study, Kirti Rani, who conducted the research on Spinal Muscular Atrophy (SMA). As a researcher affiliated with the Amity Institute of Biotechnology, her insights and findings are critical in understanding the complexities surrounding SMA and advocating for better therapeutic management and awareness.
2) Drug:
The term 'drug' refers to pharmaceutical agents that are researched for their potential effectiveness in treating Spinal Muscular Atrophy (SMA). Current investigational therapies aim to enhance the levels of SMN protein, stabilize motor neuron function, and ultimately improve the quality of life for patients suffering from this disorder.
3) Mutation:
Mutation signifies the genetic alterations in the SMN1 gene, which are the key cause of Spinal Muscular Atrophy (SMA). Understanding these mutations is vital for diagnosing the disease, informing genetic counseling, and guiding research towards potential treatments aimed at rectifying or compensating for these genetic defects.
4) Disease:
Here, 'disease' refers to Spinal Muscular Atrophy (SMA), a severe autosomal recessive genetic disorder affecting motor neurons, leading to muscle weakness and severe physical disabilities. Recognizing SMA as a disease highlights the urgency for effective diagnostic tools and therapeutic interventions to enhance patient care and support.
5) Life:
In the context of SMA, 'life' relates to the survival and quality of life of affected individuals. Advances in medical research and therapeutic interventions aim to extend life expectancy and improve the daily functioning of patients, addressing both physical symptoms and emotional well-being.
6) Death:
Death is a significant concern in SMA, as it is one of the leading genetic causes of infant mortality. Understanding the progression of this disease and its risks serves as a critical motivator for developing effective interventions to prolong life and improve the overall health of individuals with SMA.
7) Horn:
Horn in this context refers to the 'ventral horn' of the spinal cord, where motor neurons are located and are notably affected by SMA. The health and functionality of these neurons are crucial for voluntary muscle control, making it essential to study how SMA impacts this region and develop therapies accordingly.
8) Activity:
Activity denotes the voluntary movements that are compromised in individuals with SMA due to muscle weakness and atrophy. Understanding the types of physical activities affected by SMA helps characterize the disease and inform rehabilitation strategies to maintain as much motor function as possible.
9) Family:
Family plays a vital role in the context of genetic disorders like SMA, particularly concerning genetic counseling and support. Families of SMA patients must navigate the implications of the disorder, including risks for future generations, which is key in decision-making about having children.
10) India:
India is the country associated with the author and the context of the study. The challenges of managing and treating SMA in India, including access to healthcare resources and genetic counseling, highlight the need for improved clinical policies and support systems for affected families.
11) Kirti (Kirtti):
Kirti is the first name of the author Kirti Rani, who conducted the study on SMA. Her research contributions are important in addressing the gaps in understanding and managing this genetic disorder, emphasizing the need for better therapeutics and support systems for affected individuals and families.
12) Study (Studying):
The 'study' refers to the comprehensive review conducted on Spinal Muscular Atrophy (SMA), focusing on its therapeutic management and genetic aspects. This study highlights the importance of understanding SMA for improving diagnostic methods and advocating for effective treatments and ethical considerations in patient care.
13) Genetic disorder:
Genetic disorder characterizes SMA, describing it as a disease caused by mutations in specific genes, especially the SMN1 gene. Recognizing SMA as a genetic disorder emphasizes the need for genetic testing, counseling, and research into therapeutic interventions that may target the underlying genetic causes.
14) Genetic defect:
Genetic defect refers to the specific mutations in the SMN1 gene that lead to Spinal Muscular Atrophy (SMA). Understanding these defects is crucial for clinical diagnosis, genetic counseling, and advancing research aimed at developing therapies that can potentially correct or mitigate the impacts of these mutations.
15) Swallowing:
Swallowing signifies a vital function affected by SMA, particularly as muscle weakness progresses. The impairment of swallowing can severely impact nutrition and overall health in SMA patients, highlighting the need for supportive therapies to assist with feeding and enhance quality of life.
16) Knowledge:
Knowledge encompasses the scientific understanding of SMA, including its genetic basis, symptoms, and potential treatments. Increasing awareness about SMA among healthcare providers and families is essential for improving diagnosis, management, and support for individuals affected by this disorder.
17) Observing:
Observing refers to the act of monitoring or studying the symptoms and progression of SMA. Careful observation by healthcare professionals and families is crucial for detecting changes in muscle function and implementing timely interventions to manage complications associated with the disorder.
18) Hand:
Hand refers to one of the body parts affected by SMA, where muscle weakness may lead to loss of functionality. Monitoring hand movements and functionality in SMA patients is essential for assessing the severity of the condition and tailoring rehabilitation approaches to preserve motor skills.
19) Male:
Male denotes the gender that, due to having only one X chromosome, is more severely affected by X-linked genetic disorders like SMA. Understanding the implications of being male in the context of SMA informs genetic counseling and highlights disparities in disease severity among genders.
Other Science Concepts:
Discover the significance of concepts within the article: ‘Spinal muscular atrophy (sma)’. Further sources in the context of Science might help you critically compare this page with similair documents:
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