Opinion|Videos|June 17, 2024

Presentation of Adult Spinal Muscular Atrophy in Clinics

Author(s)Lauren Elman, MD
Arun S. Varadhachary, MD, PhD

Leading medical professionals specializing in spinal muscular atrophy (SMA) discuss the common clinical presentations of undiagnosed or newly diagnosed adult patients, highlighting crucial signs and symptoms that healthcare providers should recognize.

How do previously undiagnosed/new adult patients typically present in clinic?

Newsletter

Keep your finger on the pulse of neurology—subscribe to NeurologyLive for expert interviews, new data, and breakthrough treatment updates.

Related Articles

SKY-0515 Demonstrates Dose-Dependent Reductions in Mutant Huntingtin Protein in Phase 1 Update
September 18th 2025
International Committee Publishes 2024 Revisions to McDonald Diagnostic Criteria for Multiple Sclerosis
September 18th 2025
Treatment Strategies in Seronegative and Other Patients With Myasthenia Gravis
September 18th 2025
Pathophysiology of Myasthenia Gravis
September 18th 2025
RELIEV-CM Pilot Study Data Further Supports ShiraTronics’ Neuromodulation Device to Treat Chronic Migraine
September 17th 2025
Insights Into the Neurobiology of Stuttering From 2025 STARS Conference: Shahriar SheikhBahaei, PhD
September 17th 2025

Latest CME

Carolina Neuromuscular Disease Summit

In-Person + Virtual Event

Carolina Neuromuscular Disease Summit

September 27, 2025

SimulatEd™ From Discomfort to Relief: Acute Pain Management Essentials

Case-based Simulation

SimulatEd™ From Discomfort to Relief: Acute Pain Management Essentials

Jeff Gudin, MD

Clinical ShowCase: Developing a Personalized Treatment Plan for a Patient with Huntington’s Disease Associated Chorea

Clinical ShowCase: Developing a Personalized Treatment Plan for a Patient with Huntington’s Disease Associated Chorea

Daniel Claassen, MD, MS; Martha A. Nance, MD

Evolving Perspectives in Alzheimer's Disease: Reaching an Earlier Diagnosis, Understanding Neuroinflammation, and Exploring Therapeutic Advances

Evolving Perspectives in Alzheimer's Disease: Reaching an Earlier Diagnosis, Understanding Neuroinflammation, and Exploring Therapeutic Advances

Alireza Atri, MD, PhD; Erik S. Musiek, MD, PhD; Malú Gámez Tansey, PhD

Putting the Patient First in Acute Pain Management: The PA’s Guide to Incorporating Cutting-Edge Science into their Treatment Strategies

In-Person + Virtual Event

Putting the Patient First in Acute Pain Management: The PA’s Guide to Incorporating Cutting-Edge Science into their Treatment Strategies

October 9, 2025

4th Women in Neurology Conference

In-Person Event

4th Women in Neurology Conference

October 24-26, 2025

Medical Crossfire®: Integrating Real-World Data to Improve Outcomes for Patients With Multiple Sclerosis

Medical Crossfire®: Integrating Real-World Data to Improve Outcomes for Patients With Multiple Sclerosis

Carrie M. Hersh, DO, MSc, FAAN; Anna Shah, MD

Medical Crossfire® - Optimizing Management for Patients With Generalized Myasthenia Gravis: Focus on Complement Inhibitors

Medical Crossfire® - Optimizing Management for Patients With Generalized Myasthenia Gravis: Focus on Complement Inhibitors

James F. Howard Jr, MD; Nicholas J. Silvestri, MD, FAAN; Neelam Goyal, MD

Community Practice Connections™: Optimizing the Management of Tardive Dyskinesia—Addressing the Complexity of Care With Targeted Treatment

Community Practice Connections™: Optimizing the Management of Tardive Dyskinesia—Addressing the Complexity of Care With Targeted Treatment

Ilan Melnick, MD; Alejandro Alva, MD; Linda Trinh, DNP, PMHNP, FNP, MPH

Burst CME™: Optimizing Migraine Management – Addressing Unmet Needs, Individualizing Care for Diverse Populations, and Utilizing CGRP Targeted Agents

Burst CME™: Optimizing Migraine Management – Addressing Unmet Needs, Individualizing Care for Diverse Populations, and Utilizing CGRP Targeted Agents

Jessica Ailani, MD, FAHS, FAAN; Paul G. Mathew, MD, DNBPAS, FAAN, FAHS

Burst CME™: The Patient Journey – Unmet Needs From Diagnosis Through Management of Migraine

Burst CME™: The Patient Journey – Unmet Needs From Diagnosis Through Management of Migraine

Jessica Ailani, MD, FAHS, FAAN; Paul G. Mathew, MD, DNBPAS, FAAN, FAHS

Burst CME™: Setting the Stage – Individualizing Migraine Care for Diverse Populations Across Care Settings

Burst CME™: Setting the Stage – Individualizing Migraine Care for Diverse Populations Across Care Settings

Jessica Ailani, MD, FAHS, FAAN; Paul G. Mathew, MD, DNBPAS, FAAN, FAHS

Evolving Perspectives in Alzheimer Disease : Reaching an Earlier Diagnosis, Understanding Neuroinflammation, and Exploring Therapeutic Advances

Evolving Perspectives in Alzheimer Disease : Reaching an Earlier Diagnosis, Understanding Neuroinflammation, and Exploring Therapeutic Advances

Alireza Atri, MD, PhD; Erik S. Musiek, MD, PhD; Malú Gámez Tansey, PhD

Burst CME™: Optimizing the Use of CGRP Targeted Agents for the Treatment of Migraine

Burst CME™: Optimizing the Use of CGRP Targeted Agents for the Treatment of Migraine

Jessica Ailani, MD, FAHS, FAAN; Paul G. Mathew, MD, DNBPAS, FAAN, FAHS

Expert Illustrations & Commentaries™: Visualizing the Role of B Cells as Therapeutic Targets for Generalized Myasthenia Gravis

Expert Illustrations & Commentaries™: Visualizing the Role of B Cells as Therapeutic Targets for Generalized Myasthenia Gravis

October 31, 2025

Cases and Conversations™: Applying Best Practices to Prevent Shingles in Your Practice

Cases and Conversations™: Applying Best Practices to Prevent Shingles in Your Practice

Paul G. Auwaerter, MD, MBA; Paul P. Doghramji, MD, FAAFP; Aruna Subramanian, MD

Patient, Provider, and Caregiver Connection™: Pediatric Myasthenia Gravis—Current Treatment and Emerging Concepts

Patient, Provider, and Caregiver Connection™: Pediatric Myasthenia Gravis—Current Treatment and Emerging Concepts

John F. Brandsema, MD; Abigail N. Schwaede, MD; Samuel J. Mackenzie, MD, PhD

Mind Moments™: Optimizing Management for Patients with Generalized Myasthenia Gravis

Mind Moments™: Optimizing Management for Patients with Generalized Myasthenia Gravis

James F. Howard Jr, MD

Cases and Conversations™: Navigating the Complexities of Managing Myasthenia Gravis in Pediatric and Pregnant Patient Populations

Cases and Conversations™: Navigating the Complexities of Managing Myasthenia Gravis in Pediatric and Pregnant Patient Populations

John Brandsema, MD; Neelam Goyal, MD

Identifying and Treating CIDP in the Modern Era

Identifying and Treating CIDP in the Modern Era

Jeffrey A. Allen, MD; Karissa L. Gable, MD

Cases and Conversations™: Little Voices, Big Challenges – Comprehensive Care for Pediatric Spinal Muscular Atrophy

Cases and Conversations™: Little Voices, Big Challenges – Comprehensive Care for Pediatric Spinal Muscular Atrophy

John Brandsema, MD; Carla D. Zingariello, DO

A Breath of Strength: Managing Cancer Associated LEMS and Lung Cancer as One

A Breath of Strength: Managing Cancer Associated LEMS and Lung Cancer as One

Estelamari Rodriguez, MD, MPH; Millie Das, MD; Ruham Nasany, MD

Striking the Right Nerve: Managing Cancer Associated LEMS in Lung Cancer Patients

Striking the Right Nerve: Managing Cancer Associated LEMS in Lung Cancer Patients

Anne Chiang, MD, PhD; J. Douglas Miles, MD, PhD, FAAN; Suma Satti, MD

Patient, Provider, and Caregiver Connection: Improving Diagnosis and Care for Adolescent Myasthenia Gravis Patients – A New Frontier

Patient, Provider, and Caregiver Connection: Improving Diagnosis and Care for Adolescent Myasthenia Gravis Patients – A New Frontier

Abigail N. Schwaede, MD; Emmanuelle (Noelle) Tiongson, MD

A New Era in NMOSD Treatment: Optimizing Therapeutic Transitions and Reducing Patient Burden

A New Era in NMOSD Treatment: Optimizing Therapeutic Transitions and Reducing Patient Burden

Shamik Bhattacharyya, MD, MS, FAAN; Mirla Avila, MD; Dean Wingerchuk, MD

PER Podcast™: Maximizing the Multidisciplinary Care Outcomes of Patients with Amyotrophic Lateral Sclerosis (ALS)

PER Podcast™: Maximizing the Multidisciplinary Care Outcomes of Patients with Amyotrophic Lateral Sclerosis (ALS)

Richard Bedlack, MD, PhD

PER Podcast™: Best Strategies for Approaching the Diagnosis of Amyotrophic Lateral Sclerosis (ALS)

PER Podcast™: Best Strategies for Approaching the Diagnosis of Amyotrophic Lateral Sclerosis (ALS)

Terry Heiman-Patterson, MD

PER Postgame™: Updates from ANNA in the Management of IgA Nephropathy

PER Postgame™: Updates from ANNA in the Management of IgA Nephropathy

Gerald Bernard Appel, MD; Ellie Kelepouris, MD, FACP, FAHA

Patient, Provider, and Caregiver Connection: Turning a New Leaf in Acute Pain Management – How Recent Advancements Impact the Treatment Paradigm

Patient, Provider, and Caregiver Connection: Turning a New Leaf in Acute Pain Management – How Recent Advancements Impact the Treatment Paradigm

Jeffrey Gudin, MD; Jeffrey Bettinger, PharmD

Trending on NeurologyLive - Clinical Neurology News and Neurology Expert Insights

Daridorexant Provides Relief for Insomnia in Women During Menopausal Transition

New Study Finds Link Between Gut Hormone GLP-1 and NMOSD Symptoms, Paving Way for Targeted Treatments

Stem Cells of Secondary Progressive Multiple Sclerosis Drive Increased Proinflammatory T-Cell Activity

International Committee Publishes 2024 Revisions to McDonald Diagnostic Criteria for Multiple Sclerosis

RELIEV-CM Pilot Study Data Further Supports ShiraTronics’ Neuromodulation Device to Treat Chronic Migraine

© 2025 MJH Life Sciences^®

All rights reserved.