2023 Rare Neurological Disease Special Report

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INTRODUCTIONS

Editor’s note
By Glenn S. Williams
2023 is indeed a noteworthy year. As you will read in this issue, it marks the 40th anniversary of the landmark Orphan Drug Act (ODA) and the formation of the National Organization for Rare Disorders. 2023 also marks the 30th anniversary of Neurology Reviews, the parent publication of the Rare Neurological Disease Special Report.

A note from NORD
By Edward Neilan, MD, PhD
The coalition of rare disease advocates who sparked rare disease advocacy and convinced lawmakers to pass the ODA in 1983 established NORD that same year to provide an ongoing, unified voice for the needs of the rare disease community.

Rare disease roundup
A look back at some of the 2023 rare disease headlines from Neurology Reviews.
 

CLINICAL REVIEWS

The Orphan Drug Act and NORD at their 40th anniversary: Dramatic achievements and ongoing innovation
By Batya Swift Yasgur, MA, MSW
The movement whose face is ODA and NORD continues to build its legacy. Next? Progress in rare disease care will require an all-in approach to solving a looming and massive public health challenge.

Emerging therapies in Duchenne and facioscapulohumeral muscular dystrophy
By Frieda Wiley, PharmD
Newly approved and investigational therapies, and enhanced diagnostics, are sparking optimism about treating MD – especially Duchenne and facioscapulohumeral types.

Has prompt diagnosis of amyotrophic lateral sclerosis become urgent?
By Ted Bosworth
Optimism is high about improving the survival and care of ALS patients. Neurologists who don’t specialize in ALS can add to the positivity by endorsing a role in speedier diagnostic pathways.

A new chapter for research on treating Huntington’s disease
By Jennie Smith
Setbacks in trials of protein-lowering therapies – mostly over their safety – mask a story of rapid advances and a more recently discovered treatment pathway that also offers promise for other diseases.

The dawning age of therapy for Friedreich ataxia
By Neil Osterweil
The first therapy to target the underlying pathology of Friedreich ataxia was approved in 2023. Other drug and genetic therapies are in the pipeline.

Stiff person syndrome: When a rare disorder hits the headlines
By Kate Johnson
Awareness of this disorder is increasing, but clinicians are challenged to apply the proper workup to avoid wrong turns in identifying affected patients.

Advances in testing and therapeutics are improving the lives of patients with Fabry disease
By Lorraine L. Janeczko, MPH
Thanks to robust research efforts, treatment options are expanding and patients are getting their diagnosis earlier – often, when they are presymptomatic and treatment has greater potential for enhancing quality of life.

Guillain-Barré syndrome: Honing treatment strategies
By John Jesitus
Classic subtypes of Guillain-Barré syndrome are varying manifestations of a shared disease process, novel insights into the disease indicate. This understanding is yielding new treatment strategies.

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INTRODUCTIONS

Editor’s note
By Glenn S. Williams
2023 is indeed a noteworthy year. As you will read in this issue, it marks the 40th anniversary of the landmark Orphan Drug Act (ODA) and the formation of the National Organization for Rare Disorders. 2023 also marks the 30th anniversary of Neurology Reviews, the parent publication of the Rare Neurological Disease Special Report.

A note from NORD
By Edward Neilan, MD, PhD
The coalition of rare disease advocates who sparked rare disease advocacy and convinced lawmakers to pass the ODA in 1983 established NORD that same year to provide an ongoing, unified voice for the needs of the rare disease community.

Rare disease roundup
A look back at some of the 2023 rare disease headlines from Neurology Reviews.
 

CLINICAL REVIEWS

The Orphan Drug Act and NORD at their 40th anniversary: Dramatic achievements and ongoing innovation
By Batya Swift Yasgur, MA, MSW
The movement whose face is ODA and NORD continues to build its legacy. Next? Progress in rare disease care will require an all-in approach to solving a looming and massive public health challenge.

Emerging therapies in Duchenne and facioscapulohumeral muscular dystrophy
By Frieda Wiley, PharmD
Newly approved and investigational therapies, and enhanced diagnostics, are sparking optimism about treating MD – especially Duchenne and facioscapulohumeral types.

Has prompt diagnosis of amyotrophic lateral sclerosis become urgent?
By Ted Bosworth
Optimism is high about improving the survival and care of ALS patients. Neurologists who don’t specialize in ALS can add to the positivity by endorsing a role in speedier diagnostic pathways.

A new chapter for research on treating Huntington’s disease
By Jennie Smith
Setbacks in trials of protein-lowering therapies – mostly over their safety – mask a story of rapid advances and a more recently discovered treatment pathway that also offers promise for other diseases.

The dawning age of therapy for Friedreich ataxia
By Neil Osterweil
The first therapy to target the underlying pathology of Friedreich ataxia was approved in 2023. Other drug and genetic therapies are in the pipeline.

Stiff person syndrome: When a rare disorder hits the headlines
By Kate Johnson
Awareness of this disorder is increasing, but clinicians are challenged to apply the proper workup to avoid wrong turns in identifying affected patients.

Advances in testing and therapeutics are improving the lives of patients with Fabry disease
By Lorraine L. Janeczko, MPH
Thanks to robust research efforts, treatment options are expanding and patients are getting their diagnosis earlier – often, when they are presymptomatic and treatment has greater potential for enhancing quality of life.

Guillain-Barré syndrome: Honing treatment strategies
By John Jesitus
Classic subtypes of Guillain-Barré syndrome are varying manifestations of a shared disease process, novel insights into the disease indicate. This understanding is yielding new treatment strategies.

INTRODUCTIONS

Editor’s note
By Glenn S. Williams
2023 is indeed a noteworthy year. As you will read in this issue, it marks the 40th anniversary of the landmark Orphan Drug Act (ODA) and the formation of the National Organization for Rare Disorders. 2023 also marks the 30th anniversary of Neurology Reviews, the parent publication of the Rare Neurological Disease Special Report.

A note from NORD
By Edward Neilan, MD, PhD
The coalition of rare disease advocates who sparked rare disease advocacy and convinced lawmakers to pass the ODA in 1983 established NORD that same year to provide an ongoing, unified voice for the needs of the rare disease community.

Rare disease roundup
A look back at some of the 2023 rare disease headlines from Neurology Reviews.
 

CLINICAL REVIEWS

The Orphan Drug Act and NORD at their 40th anniversary: Dramatic achievements and ongoing innovation
By Batya Swift Yasgur, MA, MSW
The movement whose face is ODA and NORD continues to build its legacy. Next? Progress in rare disease care will require an all-in approach to solving a looming and massive public health challenge.

Emerging therapies in Duchenne and facioscapulohumeral muscular dystrophy
By Frieda Wiley, PharmD
Newly approved and investigational therapies, and enhanced diagnostics, are sparking optimism about treating MD – especially Duchenne and facioscapulohumeral types.

Has prompt diagnosis of amyotrophic lateral sclerosis become urgent?
By Ted Bosworth
Optimism is high about improving the survival and care of ALS patients. Neurologists who don’t specialize in ALS can add to the positivity by endorsing a role in speedier diagnostic pathways.

A new chapter for research on treating Huntington’s disease
By Jennie Smith
Setbacks in trials of protein-lowering therapies – mostly over their safety – mask a story of rapid advances and a more recently discovered treatment pathway that also offers promise for other diseases.

The dawning age of therapy for Friedreich ataxia
By Neil Osterweil
The first therapy to target the underlying pathology of Friedreich ataxia was approved in 2023. Other drug and genetic therapies are in the pipeline.

Stiff person syndrome: When a rare disorder hits the headlines
By Kate Johnson
Awareness of this disorder is increasing, but clinicians are challenged to apply the proper workup to avoid wrong turns in identifying affected patients.

Advances in testing and therapeutics are improving the lives of patients with Fabry disease
By Lorraine L. Janeczko, MPH
Thanks to robust research efforts, treatment options are expanding and patients are getting their diagnosis earlier – often, when they are presymptomatic and treatment has greater potential for enhancing quality of life.

Guillain-Barré syndrome: Honing treatment strategies
By John Jesitus
Classic subtypes of Guillain-Barré syndrome are varying manifestations of a shared disease process, novel insights into the disease indicate. This understanding is yielding new treatment strategies.

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Updates in the Management of Erosive Esophagitis

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Gastroesophageal reflux disease (GERD) encompasses various syndromes and complications associated with abnormal movement of gastric refluxate from the stomach into the esophagus, and even into the oral pharynx, lungs, and throat.

 

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Gastroesophageal reflux disease (GERD) encompasses various syndromes and complications associated with abnormal movement of gastric refluxate from the stomach into the esophagus, and even into the oral pharynx, lungs, and throat.

 

Read More

 

 

Gastroesophageal reflux disease (GERD) encompasses various syndromes and complications associated with abnormal movement of gastric refluxate from the stomach into the esophagus, and even into the oral pharynx, lungs, and throat.

 

Read More

 

 

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Pulmonology Data Trends 2023 (Slideshow)

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CHEST Physician presents the 2023 edition of Pulmonology Data Trends (click to read). This special issue provides updates on hot topics in pulmonology through original infographics and visual storytelling.

 

 

 

 

 

 

 

 

In this issue: 

 

Long-Awaited RSV Vaccines Now Available for Older Adults and Pediatric Patients
Burton L. Lesnick, MD, FCCP

Decreasing Pulmonary Embolism-Related Mortality
Parth Rali, MD

Addressing Physician Burnout in Pulmonology and Critical Care
Kelly Vranas, MD, MCR

Updated Guidelines for COPD Management: 2023 GOLD Strategy Report
Muhammad Adrish, MD, MBA, FCCP, FCCM

Progressive Pulmonary Fibrosis: Understanding Its Many Forms
Tejaswini Kulkarni, MD, MPH, FCCP

Sleep Apnea: Comorbidities, Racial Disparities, Weight Guidelines, and Alternatives to CPAP
Lauren Tobias, MD, FCCP

Lung Cancer Screening: A Need for Adjunctive Testing
Eric S. Edell, MD, FCCP

Asthma Across a Woman’s Lifespan
Navitha Ramesh, MD, FCCP

Tuberculosis Management: Returning to Pre-Pandemic Priorities
Patricio Escalante, MD, MSc, FCCP, and Paige K. Marty, MD

Long COVID: Advocating for Patients and Implementing Effective Techniques
Kyle B. Enfield, MD, MS, FSHEA, FCCM

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CHEST Physician presents the 2023 edition of Pulmonology Data Trends (click to read). This special issue provides updates on hot topics in pulmonology through original infographics and visual storytelling.

 

 

 

 

 

 

 

 

In this issue: 

 

Long-Awaited RSV Vaccines Now Available for Older Adults and Pediatric Patients
Burton L. Lesnick, MD, FCCP

Decreasing Pulmonary Embolism-Related Mortality
Parth Rali, MD

Addressing Physician Burnout in Pulmonology and Critical Care
Kelly Vranas, MD, MCR

Updated Guidelines for COPD Management: 2023 GOLD Strategy Report
Muhammad Adrish, MD, MBA, FCCP, FCCM

Progressive Pulmonary Fibrosis: Understanding Its Many Forms
Tejaswini Kulkarni, MD, MPH, FCCP

Sleep Apnea: Comorbidities, Racial Disparities, Weight Guidelines, and Alternatives to CPAP
Lauren Tobias, MD, FCCP

Lung Cancer Screening: A Need for Adjunctive Testing
Eric S. Edell, MD, FCCP

Asthma Across a Woman’s Lifespan
Navitha Ramesh, MD, FCCP

Tuberculosis Management: Returning to Pre-Pandemic Priorities
Patricio Escalante, MD, MSc, FCCP, and Paige K. Marty, MD

Long COVID: Advocating for Patients and Implementing Effective Techniques
Kyle B. Enfield, MD, MS, FSHEA, FCCM

CHEST Physician presents the 2023 edition of Pulmonology Data Trends (click to read). This special issue provides updates on hot topics in pulmonology through original infographics and visual storytelling.

 

 

 

 

 

 

 

 

In this issue: 

 

Long-Awaited RSV Vaccines Now Available for Older Adults and Pediatric Patients
Burton L. Lesnick, MD, FCCP

Decreasing Pulmonary Embolism-Related Mortality
Parth Rali, MD

Addressing Physician Burnout in Pulmonology and Critical Care
Kelly Vranas, MD, MCR

Updated Guidelines for COPD Management: 2023 GOLD Strategy Report
Muhammad Adrish, MD, MBA, FCCP, FCCM

Progressive Pulmonary Fibrosis: Understanding Its Many Forms
Tejaswini Kulkarni, MD, MPH, FCCP

Sleep Apnea: Comorbidities, Racial Disparities, Weight Guidelines, and Alternatives to CPAP
Lauren Tobias, MD, FCCP

Lung Cancer Screening: A Need for Adjunctive Testing
Eric S. Edell, MD, FCCP

Asthma Across a Woman’s Lifespan
Navitha Ramesh, MD, FCCP

Tuberculosis Management: Returning to Pre-Pandemic Priorities
Patricio Escalante, MD, MSc, FCCP, and Paige K. Marty, MD

Long COVID: Advocating for Patients and Implementing Effective Techniques
Kyle B. Enfield, MD, MS, FSHEA, FCCM

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Federal Health Care Data Trends 2023

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Gastroenterology Data Trends 2023

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GI&Hepatology News and the American Gastroenterological Association present the 2023 issue of Gastroenterology Data Trends, a special report on hot topics in gastroenterology told through original infographics and visual storytelling.

In this issue:

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GI&Hepatology News and the American Gastroenterological Association present the 2023 issue of Gastroenterology Data Trends, a special report on hot topics in gastroenterology told through original infographics and visual storytelling.

In this issue:

GI&Hepatology News and the American Gastroenterological Association present the 2023 issue of Gastroenterology Data Trends, a special report on hot topics in gastroenterology told through original infographics and visual storytelling.

In this issue:

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A Special Supplement on Hot Topics in Primary Care 2023

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Hot Topics in Primary Care 2023 is a resource that explores the newest developments in primary care topics that impact your daily clinical practice.

Click on the link below to access the entire supplement. You can also click on the video panes below to view brief summaries of individual chapters. Titles above the video panes link directly to each article.

  • A Patient-Centered Approach to Managing IBS-C and CIC
  • Acute Pain in Perspective
  • Continuous Glucose Monitoring in Practice
  • Early Intervention by Family Physicians to Delay Type 1 Diabetes
  • Early Life Nutrition and the Developing Brain
  • Insomnia Management: A Review and Update
  • New Paradigms for CKD Management in Patients With T2D
  • Optimized Management of Cardio-Renal-Metabolic (CRM) Conditions in Patients with T2D
  • Reducing Cardiopulmonary Risk and Exacerbations in COPD
  • Reducing Ischemic Stroke in Diabetes: The Role of GLP-1 RAs
  • Use of ICS and Fast-Acting Bronchodilators in Asthma: Past, Present, and Future

This supplement offers the opportunity to earn a total of 4 continuing medical education (CME) credits. Credit is awarded for successful completion of the evaluation after reading the article. The links can be found within the supplement on the first page of each article where CME credits are offered.

Click here to read Hot Topics in Primary Care 2023


This supplement to The Journal of Family Practice was sponsored by the Primary Care Education Consortium and Primary Care Metabolic Group.
Check out these short video segments, which were prepared by the supplement authors and summarize the individual articles.
The title above each video links to the related article.


A Patient-Centered Approach to Managing IBS-C and CIC, Brian E. Lacy, MD, PhD, FACG



Acute Pain in Perspective, Bill McCarberg, MD


Continuous Glucose Monitoring in Practice, Eden M. Miller, DO


Early Intervention by Family Physicians to Delay Type 1 Diabetes, Steven Edelman, MD


Early Life Nutrition and the Developing Brain, Danielle Christifano, PhD; Lara Bennett, MS, RD, LD


Insomnia Management: A Review and Update, David P. Shaha, MD


New Paradigms for CKD Management in Patients With T2D, Joshua J. Neumiller, PharmD, CDCES, FADCES, FASCP; Stephen A. Brunton, MD, FAAFP, CDCES


Optimized Management of Cardio-Renal-Metabolic (CRM) Conditions in Patients with T2D, Jay H. Shubrook, DO; Joshua J. Neumiller, PharmD, CDCES, FADCES, FASCP


Reducing Cardiopulmonary Risk and Exacerbations in COPD, Barbara Yawn, MD, MSc, FAAFP


Reducing Ischemic Stroke in Diabetes: The Role of GLP-1 Ras, John E. Anderson, MD; Javed Butler, MD, MPH, MBA; Andrei V. Alexandrov, MD


Use of ICS and Fast-Acting Bronchodilators in Asthma: Past, Present, and Future, Neil Skolnik, MD; Marissa Norden, DO; Njira Lugogo, MD: Wendy Wright, DNP, ANP-BC, FNP-BC, FAANP, FAAN, FNAP

Sponsor
This supplement was sponsored by Primary Care Education Consortium and Primary …
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The Journal of Family Practice - 72(6)
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This supplement was sponsored by Primary Care Education Consortium and Primary …
Sponsor
This supplement was sponsored by Primary Care Education Consortium and Primary …

Hot Topics in Primary Care 2023 is a resource that explores the newest developments in primary care topics that impact your daily clinical practice.

Click on the link below to access the entire supplement. You can also click on the video panes below to view brief summaries of individual chapters. Titles above the video panes link directly to each article.

  • A Patient-Centered Approach to Managing IBS-C and CIC
  • Acute Pain in Perspective
  • Continuous Glucose Monitoring in Practice
  • Early Intervention by Family Physicians to Delay Type 1 Diabetes
  • Early Life Nutrition and the Developing Brain
  • Insomnia Management: A Review and Update
  • New Paradigms for CKD Management in Patients With T2D
  • Optimized Management of Cardio-Renal-Metabolic (CRM) Conditions in Patients with T2D
  • Reducing Cardiopulmonary Risk and Exacerbations in COPD
  • Reducing Ischemic Stroke in Diabetes: The Role of GLP-1 RAs
  • Use of ICS and Fast-Acting Bronchodilators in Asthma: Past, Present, and Future

This supplement offers the opportunity to earn a total of 4 continuing medical education (CME) credits. Credit is awarded for successful completion of the evaluation after reading the article. The links can be found within the supplement on the first page of each article where CME credits are offered.

Click here to read Hot Topics in Primary Care 2023


This supplement to The Journal of Family Practice was sponsored by the Primary Care Education Consortium and Primary Care Metabolic Group.
Check out these short video segments, which were prepared by the supplement authors and summarize the individual articles.
The title above each video links to the related article.


A Patient-Centered Approach to Managing IBS-C and CIC, Brian E. Lacy, MD, PhD, FACG



Acute Pain in Perspective, Bill McCarberg, MD


Continuous Glucose Monitoring in Practice, Eden M. Miller, DO


Early Intervention by Family Physicians to Delay Type 1 Diabetes, Steven Edelman, MD


Early Life Nutrition and the Developing Brain, Danielle Christifano, PhD; Lara Bennett, MS, RD, LD


Insomnia Management: A Review and Update, David P. Shaha, MD


New Paradigms for CKD Management in Patients With T2D, Joshua J. Neumiller, PharmD, CDCES, FADCES, FASCP; Stephen A. Brunton, MD, FAAFP, CDCES


Optimized Management of Cardio-Renal-Metabolic (CRM) Conditions in Patients with T2D, Jay H. Shubrook, DO; Joshua J. Neumiller, PharmD, CDCES, FADCES, FASCP


Reducing Cardiopulmonary Risk and Exacerbations in COPD, Barbara Yawn, MD, MSc, FAAFP


Reducing Ischemic Stroke in Diabetes: The Role of GLP-1 Ras, John E. Anderson, MD; Javed Butler, MD, MPH, MBA; Andrei V. Alexandrov, MD


Use of ICS and Fast-Acting Bronchodilators in Asthma: Past, Present, and Future, Neil Skolnik, MD; Marissa Norden, DO; Njira Lugogo, MD: Wendy Wright, DNP, ANP-BC, FNP-BC, FAANP, FAAN, FNAP

Hot Topics in Primary Care 2023 is a resource that explores the newest developments in primary care topics that impact your daily clinical practice.

Click on the link below to access the entire supplement. You can also click on the video panes below to view brief summaries of individual chapters. Titles above the video panes link directly to each article.

  • A Patient-Centered Approach to Managing IBS-C and CIC
  • Acute Pain in Perspective
  • Continuous Glucose Monitoring in Practice
  • Early Intervention by Family Physicians to Delay Type 1 Diabetes
  • Early Life Nutrition and the Developing Brain
  • Insomnia Management: A Review and Update
  • New Paradigms for CKD Management in Patients With T2D
  • Optimized Management of Cardio-Renal-Metabolic (CRM) Conditions in Patients with T2D
  • Reducing Cardiopulmonary Risk and Exacerbations in COPD
  • Reducing Ischemic Stroke in Diabetes: The Role of GLP-1 RAs
  • Use of ICS and Fast-Acting Bronchodilators in Asthma: Past, Present, and Future

This supplement offers the opportunity to earn a total of 4 continuing medical education (CME) credits. Credit is awarded for successful completion of the evaluation after reading the article. The links can be found within the supplement on the first page of each article where CME credits are offered.

Click here to read Hot Topics in Primary Care 2023


This supplement to The Journal of Family Practice was sponsored by the Primary Care Education Consortium and Primary Care Metabolic Group.
Check out these short video segments, which were prepared by the supplement authors and summarize the individual articles.
The title above each video links to the related article.


A Patient-Centered Approach to Managing IBS-C and CIC, Brian E. Lacy, MD, PhD, FACG



Acute Pain in Perspective, Bill McCarberg, MD


Continuous Glucose Monitoring in Practice, Eden M. Miller, DO


Early Intervention by Family Physicians to Delay Type 1 Diabetes, Steven Edelman, MD


Early Life Nutrition and the Developing Brain, Danielle Christifano, PhD; Lara Bennett, MS, RD, LD


Insomnia Management: A Review and Update, David P. Shaha, MD


New Paradigms for CKD Management in Patients With T2D, Joshua J. Neumiller, PharmD, CDCES, FADCES, FASCP; Stephen A. Brunton, MD, FAAFP, CDCES


Optimized Management of Cardio-Renal-Metabolic (CRM) Conditions in Patients with T2D, Jay H. Shubrook, DO; Joshua J. Neumiller, PharmD, CDCES, FADCES, FASCP


Reducing Cardiopulmonary Risk and Exacerbations in COPD, Barbara Yawn, MD, MSc, FAAFP


Reducing Ischemic Stroke in Diabetes: The Role of GLP-1 Ras, John E. Anderson, MD; Javed Butler, MD, MPH, MBA; Andrei V. Alexandrov, MD


Use of ICS and Fast-Acting Bronchodilators in Asthma: Past, Present, and Future, Neil Skolnik, MD; Marissa Norden, DO; Njira Lugogo, MD: Wendy Wright, DNP, ANP-BC, FNP-BC, FAANP, FAAN, FNAP

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Cancer Data Trends 2023

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Depression in People With Multiple Sclerosis

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Many people believe that a diagnosis of MS and its progression can bring on depression. But is that really true?

This supplement examines the two-way connection between MS and depression. It gives you tools to actively look for signs of depression and develop techniques to more effectively communicate with and manage these individuals.

Click here to read more 

 

 

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Many people believe that a diagnosis of MS and its progression can bring on depression. But is that really true?

This supplement examines the two-way connection between MS and depression. It gives you tools to actively look for signs of depression and develop techniques to more effectively communicate with and manage these individuals.

Click here to read more 

 

 

 

Many people believe that a diagnosis of MS and its progression can bring on depression. But is that really true?

This supplement examines the two-way connection between MS and depression. It gives you tools to actively look for signs of depression and develop techniques to more effectively communicate with and manage these individuals.

Click here to read more 

 

 

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