Trusted Resources: Education

Scientific literature and patient education texts

59 resources available:
The management of patients with spinal muscular atrophy type 1 (SMA1) is constantly evolving. In just a few decades, the medical approach has switched from an exclusively palliative therapy to targeted therapy, transforming the natural history of the disease, improving survival time and quality of life, and creating new challenges and goals. Many nutritional problems, gastrointestinal disorders, and metabolic and endocrine alterations are comm...
Background: Weakness is the primary impairment in paediatric neuromuscular diseases, impacting gait and gait-related functional activities in ambulant children affected by these rare and often degenerative diseases. Gait speed is an indicator of health and disability, yet gait is a complex, multi-faceted activity. Using the International Classification of Function, Health and Disability (ICF) model, assessment of gait and func...
Background: Adult-onset spinal muscular atrophy (SMA) represents an expanding group of inherited neurodegenerative disorders in clinical practice. Objective: This review aims to synthesize the main clinical, genetic, radiological, biochemical, and neurophysi...
Central nervous system (CNS) involvement has been variously studied in pediatric neuromuscular disorders (NMDs). The primary goal of this study was to assess cognitive functioning in NMDs, and secondary aims were to investigate possible associations of cognitive impairment with motor impairment, neurodevelopmental delay, and genotype. This was a cross-sectional study of 43 pediatric patients, affected by six NMDs. Myotonic dystrophy type 1 (DM...
Spinal muscular atrophy (SMA) is a lower motor neuron disease, once considered incurable. The main symptoms are muscle weakness and muscular atrophy. More than 90% of cases of SMA are caused by homozygous deletion of survival motor neuron 1 (). Emerging treatments, such as splicing modulation of and gene replacement therapy, have improved the prognoses and motor functions of patients. However, confirmed diagnosis by testing is often delayed, s...
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease caused by mutations inSMN1 gene encoding survival motor neuron (SMN) protein. Lack of this protein leads to progressive loss of motor neurons and therefore to gradual loss of signal transmission between motor neurons and skeletal muscle cells. As a consequence, patients develop muscle atrophy and lose the ability to move independently, what is also related to problems with breath...
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3 resources available:
Spinal muscular atrophy (SMA) is the second most common autosomal recessive disorder in childhood. It is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and characterized by degeneration of motor neurons leading to progressive muscle weakness and atrophy. A similar backup gene called survival motor neuron 2 gene (SMN2) acts as a disease modifier, with increasing number of SMN2 copies associated wit...
Spinal muscular atrophy (SMA) is an autosomal recessive, neurodegenerative disease caused by biallelic mutations in the survival motor neuron 1 (SMN1) gene. SMA is characterized by motor neuron degeneration, resulting in progressive muscle atrophy and weakness. Before the emergence of disease-modifying therapies, children with the most severe form of SMA would never achieve the ability to sit independently. Only 8% survived b...

Carrier Screening for Genetic Conditions

American College of Obstetricians and Gynecologists Year: 2017
Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. Information about carrier screening should be provided to every pregnant woman. Carrier screening and counseling ideally should be performed before pregnancy because this enables couples to lear...
26 resources available:

Every kid deserves to flaunt their best ensemble on Halloween. Get inspired by these adaptive Halloween costumes to buy or DIY, which cater to children with mental and physical disabilities.

Heading off to college can be a stressful and chaotic time on its own – but throw a chronic illness (or a few) into the mix and it becomes even trickier to manage all the demands of your day-to-day life. High stress levels or a lack of sleep can easily exacerbate your condition and lead to flare-ups, so it’s important to balance your schedule, plan ahead and make sure you have any accommodations you need to be successful. To help you...

5 Ways to Manage Back to School Stress

Muscular Dystrophy Association Year: 2022
The start of a new school year can be stressful for the whole family, especially when juggling healthcare appointments, IEP plan meetings, school supply shopping, and assembling a back-to-school wardrobe. At the same time, stress can make neuromuscular conditions worse. For example, research published in the journal Developmental Biology found that stress can induce muscle degeneration, making them less adaptive to temperature changes. A...

Section 504 of The Rehabilitation Act of 1973

Center for Parent Information and Resources Year: 2016
Section 504 of the Rehabilitation Act of 1973, as amended, is a civil rights law that prohibits discrimination on the basis of disability. This law applies to public elementary and secondary schools, among other entities. Section 504 requires that school districts provide a free appropriate public education (FAPE) to qualified students in their jurisdictions who have a physical or mental impairment that substantially limits one or more m...

504 Education Plans – KidsHealth

KidsHealth Year: 2016
Kids with physical or mental disabilities can face academic hurdles for a variety of reasons. But parents can take advantage of federal laws to help ensure their children’s special needs are met. Section 504 of the U.S. Rehabilitation Act of 1973 is designed to help parents of students with physical or mental impairments in public schools, or publicly funded private schools, work with educators to design customized educational plans. The...

A Teacher’s Guide to Neuromuscular Disease

Muscular Dystrophy Association Inc. Year: 2019
We have created this booklet to help provide information and support to teachers of students with a neuromuscular disease. It is our goal that this booklet will help you better understand the challenges faced by children and adolescents affected by neuromuscular conditions, including muscular dystrophy, spinal muscular atrophy and Charcot-Marie-Tooth disease. This guide suggests general strategies to enhance your student’s school experience...
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2 resources available:
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease that commonly affects children, and usually worsens with age that often leads to permanent disability and death for many of the SMA patients. Recently, two drugs are developed to improving the quality of life of SMA sufferers: Evrysdi and Nusinersen. This study is identified by a systematic literature review to compare two treatments. The comparison attempts to...
This study describes the current landscape of physical therapy practice recommendations in the United States for children with spinal muscular atrophy (SMA) and their relationship to current SMA standard of care (SMA-SOC) guidelines. Pediatric physical therapists were surveyed to determine their knowledge of SMA-SOC guidelines, and the type, duration and frequency of intervention they recommend for children with SMA, as well...
4 resources available:
Spinal muscular atrophy (SMA) is a genetic disorder characterized by degeneration of lower motor neurons, leading to progressive muscular atrophy, muscle weakness, and muscle paralysis. SMA is usually associated with defect of the survival motor neuron-1 (SMN-1) gene, localized in 5q11.2–q13.3. Classification of SMA is based on the age of onset and maximum motor function milestone achieved: SMA type I (Werdnig–Hoffmann di...
Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells in the spinal cord, resulting in muscle atrophy, and proximal muscle weakness. SMA presents with a wide range of symptoms requiring multiple clinical specialists and therapists. Integrating care between disciplines can be challenging due to the dynamic course of the disease, and great distances between specia...
The gene encodes a part of the dynamic protein, and the protein mutations may further affect the growth and development of neurons, resulting in degeneration of anterior horn cells of the spinal cord, and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-Tooth disease type 20 (CMT20), mental retardation 13 (MRD13) and spinal muscular atrophy with lower extremity predominant 1 (SMA-LED). The incidence of the disease is...

Given the novelty of gene replacement therapy with onasemnogene abeparvovec in spinal muscular atrophy, efficacy and safety data are limited, especially for children older than 24 months, those weighing more than 8·5 kg, and those who have received nusinersen. We aimed to provide real-world data on motor function and safety after gene replacement therapy in different patient subgroups.