Journal name: World Journal of Pharmaceutical Research
Original article title: Spinal muscular atrophy
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.
This page presents a generated summary with additional references; See source (below) for actual content.
Subtitle: optimizing clinical outcomes with novel therapies and role of pharmacists: a review
Original source:
This page is merely a summary which is automatically generated hence you should visit the source to read the original article which includes the author, publication date, notes and references.
Payal Dasgupta, Bhupen Kalita and Kamallochan Barman
World Journal of Pharmaceutical Research:
(An ISO 9001:2015 Certified International Journal)
Full text available for: Spinal muscular atrophy
Source type: An International Peer Reviewed Journal for Pharmaceutical and Medical and Scientific Research
Doi: 10.20959/wjpr202111-21346
Copyright (license): WJPR: All rights reserved
Summary of article contents:
Introduction
Spinal Muscular Atrophy (SMA) is a group of inherited genetic disorders caused by the loss of motor neurons or anterior horn cells, leading to muscle wasting and weakness, primarily in the proximal muscles. The severity of symptoms typically increases with age, significantly impacting motor functions such as crawling, walking, and even critical functions like breathing and swallowing in more severe cases. The most prevalent form of SMA is an autosomal recessive disorder, affecting approximately 95% of those diagnosed, with two mutated genes being inherited from parents. Diagnosis is achieved through various methods, including blood tests and genetic testing, although there is currently no complete cure.
Understanding SMA Types
The classification of SMA is based on the highest motor milestone an individual can achieve and the age of onset, leading to the identification of four primary types. Type 1, known as Werdnig-Hoffman disease, is the most severe, with onset before six months, resulting in significant motor impairment and a high mortality rate. Type 2 appears between six and 18 months, featuring patients who can sit but never walk independently. Type 3 (Kugelberg-Welander disease) occurs after 18 months, allowing for some individuals to walk unassisted, while Type 4 manifests in adulthood with milder symptoms and slower progression.
Diagnostic Approaches
Diagnosis of SMA relies heavily on molecular genetic testing, which is considered the gold standard. Approximately 95% of SMA patients show a homozygous deletion of both copies of the SMN1 gene. Other diagnostic methods include electromyography (EMG), nerve conduction studies, and muscle biopsy in some cases. Preconception and prenatal testing are recommended for families with a history of SMA, further underscoring the need for early diagnosis and management.
Treatment Options
While SMA is an incurable condition, several treatment options are available that focus on managing symptoms and improving the quality of life. Notably, drug therapies like Nusinersen (Spinraza) and gene therapy with Zolgensma have been approved to improve motor function. Nusinersen enhances the production of SMN protein, whereas Zolgensma is a one-time gene replacement therapy aimed at restoring the defective SMN1 gene. Additionally, supportive measures such as physical therapy, respiratory care, and nutritional support are crucial for managing complications associated with the disease.
Conclusion
The challenges presented by Spinal Muscular Atrophy can be daunting for patients and their families, as it significantly disrupts muscle control and overall quality of life. Although there are no definitive cures available, ongoing research and the introduction of innovative treatments offer hope for managing this rare genetic condition. Addressing the symptoms effectively, while understanding the associated complications, remains critical in improving the lives of those living with SMA.
FAQ section (important questions/answers):
What is Spinal Muscular Atrophy (SMA) and its causes?
Spinal Muscular Atrophy (SMA) is an inherited genetic disorder caused by the loss of motor neurons, resulting in muscle wasting and weakness, particularly in proximal muscles. Most cases are autosomal recessive, requiring two mutated genes from both parents.
What are the common symptoms of SMA?
Symptoms of SMA include muscle weakness, difficulty crawling, walking, and controlling head movements. In severe cases, it may also affect the muscles responsible for breathing and swallowing. Symptoms worsen with age, particularly in early-onset types.
How is SMA diagnosed?
Diagnosis of SMA involves blood tests, molecular genetic testing, and electromyography (EMG). Genetic testing typically reveals a homozygous deletion of the SMN1 gene, confirming the disease in 95% of patients.
What treatment options are available for SMA?
While there is no complete cure, treatments include gene replacement therapy like Zolgensma and the drug Nusinersen (Spinraza). Physical, occupational therapy, and rehabilitation can also help manage symptoms and improve muscle function.
What is the prognosis for SMA patients?
Prognosis varies by SMA type. Type 1 has a median survival of 7 months, while Type 4, the mildest form, allows patients to remain ambulatory until around 60 years of age.
What complications can occur in SMA patients?
SMA patients may face gastrointestinal, respiratory, and orthopedic complications that can impact their quality of life. These complications can be life-threatening and may require ongoing management and support.
Glossary definitions and references:
Scientific and Ayurvedic Glossary list for “Spinal muscular atrophy”. 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) Disease:
Diseases are pathological conditions resulting from various factors, such as genetics, infections, or environmental influences. The classification and study of diseases like SMA inform medical professionals about differential diagnosis and treatment approaches necessary to manage complex genetic and neuromuscular disorders effectively.
2) Swallowing:
Swallowing is the process by which food or liquid is moved from the mouth to the stomach. In SMA patients, weak throat and mouth muscles complicate this process, leading to difficulties and sometimes requiring interventions such as feeding tubes. Proper swallowing is essential for nutritional intake and overall health.
3) Death:
Death denotes the cessation of all biological functions that sustain a living organism. In the context of SMA, the mortality rates are significantly higher in cases of early-onset SMA, where respiratory failure is a leading cause of death, underscoring the disease's severity and potential life-threatening consequences.
4) Birth:
Births denote the process of bringing a new life into the world. The statistics surrounding SMA incidence during live births emphasize the importance of early diagnosis and intervention, shaping healthcare strategies aimed at improving outcomes for newborns affected by genetic disorders.
5) Drug:
A drug refers to a substance used to diagnose, cure, mitigate, treat, or prevent disease. SMA treatments, such as Nusinersen and Zolgensma, illustrate the role of pharmaceuticals in managing genetic disorders, reflecting advancements in medical science aimed at improving patient outcomes and life quality.
6) Life:
Life refers to the condition of being alive, encompassing biological processes that sustain organisms. For SMA patients, life involves coping with the challenges of muscle degeneration. Quality of life can be severely affected, emphasizing the importance of supportive measures and treatments to enhance daily functioning.
7) Family:
Family represents a crucial social unit involving relationships among individuals, often providing emotional and financial support during health challenges. In SMA, families play a vital role in caregiving and decision-making, navigating the implications of the condition while often striving for the best care for affected members.
8) Hand:
Hands symbolize the functional capability of limbs used for movement and interaction. In the context of SMA, the assessment of hand strength and ability highlights the disease's physical implications, impacting daily tasks, independence, and the need for supportive therapies to enhance motor function.
9) Genetic disorder:
Genetic disorder refers to conditions caused by abnormalities in genes or chromosomes. SMA is classified as an autosomal recessive genetic disorder, indicating the importance of genetic factors in its etiology. Understanding such disorders is essential for diagnosis, management, and potential genetic counseling for affected families.
10) Maharashtra (Maharastra, Maha-rashtra):
Maharashtra is a state in western India known for its diverse culture and economic significance. As the state housing multiple medical institutions and research facilities, it plays a crucial role in the management of genetic disorders like SMA, providing access to specialized care and treatment options for affected individuals.
11) Suffering:
Suffering denotes the experience of pain or distress. For individuals with SMA, suffering involves physical limitations, emotional challenges, and the impact on family dynamics. Recognizing and addressing suffering is vital in patient care, promoting supportive strategies to enhance coping mechanisms and overall well-being.
12) Adinatha (Adinath, Adi-natha):
Adinath refers to a geographic location or name, likely relevant to the context of the author or clinical care center in which SMA cases are managed. This locality can impact access to healthcare services and resources for patients and families dealing with SMA.
13) India:
India is a country in South Asia, characterized by a vast population and diverse healthcare landscape. The prevalence of genetic disorders, including SMA, necessitates targeted public health initiatives and collaboration between healthcare providers and communities to improve early diagnosis, treatment access, and patient education.
14) Blood:
Blood is the bodily fluid that delivers necessary substances to cells and transports waste products. In SMA, blood tests serve as a diagnostic tool, helping identify genetic mutations related to the disorder. They also track overall health and potential complications arising from muscle degeneration.
15) Nakar:
Nagar refers to a municipal locality in India often related to urban residential areas. In the context of SMA, localities such as Adinath Nagar can significantly affect the accessibility of healthcare facilities, support systems, and resources available to families grappling with the challenges posed by genetic disorders.
16) Pune:
Pune is a city in Maharashtra, India, known for its educational and healthcare institutions. The presence of medical facilities in Pune facilitates the management of genetic disorders like SMA, leading to advancements in research, treatment access, and community awareness for affected individuals and families.
17) Horn:
Horn is commonly associated with the anatomical term 'anterior horn,' which refers to a specific part of the spinal cord involved in motor neuron function. Understanding the anterior horn's role is key to grasping the physiological basis of SMA, where motor neurons in this area degenerate, leading to muscle weakness.
18) Medicine:
Medicine refers to the science and practice of diagnosing, treating, and preventing illness. The focus on innovative medicines for SMA, including gene therapy and other pharmacological treatments, represents the cutting edge of medical research dedicated to understanding and addressing complex genetic disorders effectively.
19) Mutation:
Mutation indicates a change in the DNA sequence, which can lead to genetic disorders. SMA results from mutations in the SMN1 gene, underscoring the genetic basis of the disease. Recognizing how mutations impact health is critical for diagnosis, treatment decision-making, and genetic counseling.
20) Pregnant:
Pregnant refers to the state of carrying a developing fetus within the womb. For families with a history of SMA, pre-pregnancy genetic testing is crucial to assess risks associated with the condition, facilitating informed reproductive choices and potential early interventions for affected children.
21) Quality:
Quality signifies the standard of something, encompassing factors that contribute to health and well-being. In SMA management, quality of life is pivotal, driving the need for effective therapies, supportive care, and rehabilitation strategies aimed at enhancing daily functioning and the overall life experience of affected individuals.
22) Mineral:
Mineral refers to inorganic substances essential for various physiological processes. In SMA, attention to dietary minerals like calcium and vitamin D becomes crucial to counteract issues such as decreased bone density, highlighting the interplay between nutrition and management of genetic conditions.
23) Study (Studying):
Study denotes the process of systematically investigating a subject to acquire knowledge. In SMA, clinical studies push forward the understanding of the disease's natural history, treatment effectiveness, and potential improvement strategies, which are vital for evolving research and care standards.
24) Gold (Golden):
Gold typically represents high value or the best standard. In SMA, the term 'gold standard' often refers to the most reliable method for accurate diagnosis, which in this context, is molecular genetic testing. Such standards guide clinicians in effective treatment approaches and care management.
Other Science Concepts:
Discover the significance of concepts within the article: ‘Spinal muscular atrophy’. Further sources in the context of Science might help you critically compare this page with similair documents:
Spinal Muscular Atrophy, Autosomal recessive disorder, Nutritional support, Muscle weakness, Occupational Therapy, Physical therapy, Scoliosis, Gene therapy, Severity level, Molecular genetic testing, Gene replacement therapy, Respiratory complications, Nusinersen (Spinraza), Creatinine kinase test, Pulmonary care, Type classification.