Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Myasthenia Gravis: Diagnostic Tests

Myasthenia Gravis: Diagnostic Tests

Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same authorSame journal

Expanding vamorolone treatment access for Canadians with Duchenne muscular dystrophy.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques·2026

Same author

Navigating sexual health, fertility, and adult wellness in individuals with Duchenne muscular dystrophy: Current standards of care and future directions.

Journal of neuromuscular diseases·2026

Same author

Mobile robotic walker enables precision moderately intense exercise and environmental exploration in a child with cerebral palsy GMFCS IV: assessment of use, user experience and quantitative impact in a home and hospital based setting.

Disability and rehabilitation. Assistive technology·2026

Same author

The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.

medRxiv : the preprint server for health sciences·2026

Same author

Supporting Self-Regulated Learning in Medical School: A National Survey.

Cureus·2026

Same author

Implementation of a neuromuscular clinical trial network: a rare disease model for enhancing clinical trial readiness, capacity, and access in Canada.

Orphanet journal of rare diseases·2026

Search research articles

Related Experiment Video

Updated: Dec 5, 2025

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy

Published on: November 3, 2016

Newborn Screening for Spinal Muscular Atrophy: Ontario Testing and Follow-up Recommendations.

Hugh J McMillan¹, Kristin D Kernohan^1,2, Ed Yeh^1,2

¹Children's Hospital of Eastern Ontario Research Institute, Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques

|October 16, 2020

Summary

Newborn screening for spinal muscular atrophy (SMA) is expanding, but SMN2 gene copy number complicates diagnosis. A new pathway standardizes evaluation for SMA newborns, ensuring timely treatment and improved outcomes.

Keywords:

Genetics Mass screening Neonatal screening Spinal muscular atrophy

More Related Videos

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis ALS

Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis ALS

Published on: March 17, 2012

Related Experiment Videos

Last Updated: Dec 5, 2025

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy

Published on: November 3, 2016

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis ALS

Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis ALS

Published on: March 17, 2012

Area of Science:

Genetics and Neurology
Newborn Screening Programs
Pediatric Neuromuscular Disorders

Background:

Spinal muscular atrophy (SMA) is a progressive neuromuscular disease causing muscle weakness and atrophy.
Nusinersen, an effective SMA therapy, has led to increased inclusion of SMA in newborn screening (NBS) programs.
SMN2 gene copy number variability in SMN1-null individuals complicates NBS interpretation and treatment decisions.

Purpose of the Study:

To establish a standardized post-referral evaluation pathway for infants with a positive SMA NBS screen.
To address diagnostic challenges in SMA newborns, particularly those with four SMN2 gene copies.

Main Methods:

Implementation of an SMA NBS pilot trial in Ontario starting January 2020.
Utilized MassARRAY (first-tier) and multi-ligand probe amplification (MLPA) (second-tier) for genetic analysis.
Development of a post-referral evaluation algorithm by pediatric neuromuscular disease and NBS experts.

Main Results:

Ontario's pilot NBS program established a standardized pathway for early SMA diagnosis.
The pathway facilitates timely initiation of treatment for infants diagnosed with SMA.
The developed algorithm outlines patient retrieval and management timelines.

Conclusions:

The pilot NBS program in Ontario provides a standardized approach for early SMA detection and treatment.
This initiative aims to ensure timely access to therapy for SMA infants.
The goal is to optimize motor function and prolong survival in affected newborns.