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Articles

Amber Freed, founder of SLC6A1 Connect, shared her personal journey and advocacy efforts to raise awareness for SLC6A1, a rare genetic epilepsy, in honor of Rare Disease Day.

Rare Disease Day 2025: Transforming Challenges Into Action for SLC6A1

Mary Schroth, MD, FAAP, FCCP, chief medical officer at Cure SMA, shed insight on the advances and promise for treating spinal muscular atrophy, in the context of Rare Disease Day.

Rare Disease Stories of Success: Newfound Hope for Spinal Muscular Atrophy

After 4 years of treatment, those on cladribine demonstrated a correlation between sustained health-related quality of life, specifically physical and mental health, and cognition.

MS Treatment Cladribine Provides Quality of Life Benefits and Improved Cognition Over 4-Year Period

Videos

The executive vice president of research at National MS Society talked about how advancements in the field of neurology are shaping new approaches to diagnosing, monitoring, and treating multiple sclerosis. [WATCH TIME: 5 minutes]

Artificial Intelligence, Myelin Repair, and Aging as Emerging Frontiers in MS Research: Bruce Bebo, PhD

Marco Meglio, Assistant Managing Editor for 

, has been with the team since October 2019. Follow him on Twitter 

Staff neurologist, Mellen Center for Multiple Sclerosis Treatment and Research, Cleveland Clinic

The staff neurologist at the Mellen Center for Multiple Sclerosis at Cleveland Clinic discussed how the CALLIPER trial’s lower proportion of patients with gadolinium-enhancing lesions mirrors clinical practice more closely than other progressive MS trials. [WATCH TIME: 2 minutes]

Ways to Align Patient Characteristics of Progressive Multiple Sclerosis Trials With Clinical Reality: Robert J. Fox, MD

The staff neurologist at the Mellen Center for Multiple Sclerosis at Cleveland Clinic discussed key insights into patient characteristics and lesion differences of the CALLIPER Trial in retrospect to other studies. [WATCH TIME: 4 minutes]

Insights on Baseline Characteristics From Major Clinical Trials in Progressive Multiple Sclerosis: Robert J. Fox, MD

NeurologyLive is your direct connection to the latest neurology news and interviews with expert neurologists in multimedia formats.

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Cure SMA:  Evaluation of SMA in the Era of Telehealth

Cure SMA

SAP Partners

The NeurologyLive Cure Connections series, “Evaluation of Spinal Muscular Atrophy in the Era of Telehealth,” put on in partnership with Cure SMA, features Diana Castro, MD, and Garey H. Noritz, MD, who offer tips and demonstrations for screening and diagnosing SMA via telehealth. Additionally, resources provided by Cure SMA are outlined for families and clinicians who suspect SMA or have a patient diagnosed with SMA.

Diana Castro, MD walks us through a pediatric neurological exam and notes examination findings that may be identified in an infant with Spinal Muscular Atrophy (SMA).

Pediatric Neurological Exam to Identify SMA

Garey H. Noritz, MD, walks us through a virtual pediatric neurological exam and notes examination findings that may be identified in an infant with Spinal Muscular Atrophy (SMA).

Virtual Exam Findings in an Infant Affected by Spinal Muscular Atrophy 

Early recognition and referral of a patient with suspected spinal muscular atrophy (SMA) to a neurologist.

Referral of SMA to a Neurologist

Diana Castro, M.D., discusses newborn screening for spinal muscular atrophy (SMA) and suggests how to care for patients after the results are received.  

Newborn Screening for SMA

The signs and symptoms leading a pediatrician to a diagnosis of spinal muscular atrophy (SMA) are discussed.

Signs and Symptoms of SMA

Diana Castro, M.D., stresses the value of the initial in-person neurology visit for evaluation of spinal muscular atrophy (SMA) to ensure a correct diagnosis. The next step in the process would be genetic testing.

Evaluation of Suspected SMA via In-Person and Remote Exam

Discussing the diagnosis of spinal muscular atrophy (SMA) with the family and lining up appointments with the multidisciplinary team to help care for the patient.

Discussing the Diagnosis of SMA With the Family

Several spinal muscular atrophy (SMA) resources are suggested to help physicians and families, including Cure SMA and standard of care guidelines.

SMA Resources for Physicians and Families

Resources are discussed, including the Child Neurology Foundation’s telehealth tip sheet, to help families navigate telehealth.

Telehealth During COVID-19

Experts remind families of the importance of follow-up visits with the multidisciplinary team during COVID-19.

Importance of Follow-Up Visits for SMA Amid COVID-19

Closing thoughts on advice to community neurologists treating spinal muscular atrophy (SMA).

Advice to Community Neurologists Treating SMA

SAP Partner

Clinical

 video series brings together expert clinicians and patients with neurologic diseases and disorders to discuss the landscapes of care, management, and treatment from both perspectives.

Virtual Exam Findings in an Infant Affected by Spinal Muscular Atrophy

EP: 1.Pediatric Neurological Exam to Identify SMA

EP: 2.Virtual Exam Findings in an Infant Affected by Spinal Muscular Atrophy

EP: 3.Referral of SMA to a Neurologist

EP: 4.Newborn Screening for SMA

EP: 5.Signs and Symptoms of SMA

EP: 6.Evaluation of Suspected SMA via In-Person and Remote Exam

EP: 7.Discussing the Diagnosis of SMA With the Family

EP: 8.SMA Resources for Physicians and Families

EP: 9.Telehealth During COVID-19

EP: 10.Importance of Follow-Up Visits for SMA Amid COVID-19

EP: 11.Advice to Community Neurologists Treating SMA