Clinical Care Guidelines for RYR-1-Related Diseases:

What Patients and Families Need to Know

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In November 2019, the RYR-1 Foundation was awarded a $50,000 grant from the Oscar & Elsa Mayer Family Foundation to produce a handbook for patients and families affected by RYR-1-related diseases. Difficulty with accessing reliable and easily comprehended information on these rare conditions is a tremendous source of frustration and anxiety for affected individuals and families. With this grant, the RYR-1 Foundation has produced an informative guide with practical and easily understood information. The RYR-1 Foundation is incredibly grateful for the support from the Oscar & Elsa Mayer Family Foundation.

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For additional resources for each chapter, please see below.
In order to access each item, you will need to click on it. 

Introduction

Additional Resources

VIDEOS

Lecture: Introduction to RYR-1-RD
Lecture: Introduction to RYR-1 Myopathy
Lecture: Introduction to Myopathy & Dystrophy

LECTURE PRESENTATIONS

RYR-1 Myopathies
Dr. James Dowling
Introduction to RYR-1-Related Diseases
Dr. A. Reghan Foley
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Myopathies and Muscular Dystrophies
Dr. Matthew P. Wicklund
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RYR-1 and Skeletal Muscles

Additional Resources

VIDEOS

Lecture: Role of Calcium in RYR-1
Interview: Role of Calcium in RYR-1

LECTURE PRESENTATION

Role of Calcium in RYR-1 Myopathy
Dr. Robert T. Dirksen

The Genetics of RYR-1-Related Diseases

Additional Resources

VIDEO

Lecture: How to Interpret Your RYR-1 Genetic Testing Results

LECTURE PRESENTATION

ABC's of RYR-1-RD
Kim Amburgey, MS, CGC

Special Education Eligibility and Services

Additional Resources

LECTURE PRESENTATION

School-Based Services for Children with RYR-1
Dr. Tammy Hughes
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The Clinical Picture of RYR-1-RD: Eating, Swallowing, and Speaking

Additional Resources

The Clinical Picture of RYR-1-RD: The Lungs/Pulmonology

Additional Resources

VIDEO

Lecture: Pulmonary Complications of RYR-1-RD

LECTURE PRESENTATION

Respiratory Management in RYR-1 Myopathy
Dr. Oscar Henry Mayer

Physical Activity and Physical Therapy:

Additional Resources

Malignant Hyperthermia

Additional Resources

VIDEOS

Lecture: Malignant Hyperthermia
Interview: Malignant Hyperthermia
Trailer: "Hodgson" Documentary
Extended Trailer: "Hodgson" Documentary

LECTURE PRESENTATION

Malignant Hyperthermia
Dr. Ronald S. Litman

The Clinical Picture of RYR-1-RD: The Bones and Joints/Orthopedics

Additional Resources

VIDEO

Lecture: Orthopaedic Complications of RYR-1-RD

The Clinical Picture of RYR-1-RD: The Muscles (Neurology)

Additional Resources

Contact: 

P.O. Box 13312, Pittsburgh, PA 15243

© 2014 by The RYR-1 Foundation. 

Phone:

412-529-1482

The information provided by The RYR-1 Foundation on this site or by any links to this site is for educational purposes only. It should not be interpreted as a recommendation for a specific treatment plan, product, medical, or healthcare provider. Use of this web site does not replace medical consultations with a qualified professional to meet the individual’s needs. In addition, medical information can change rapidly; therefore, some information may be out of date, and/or contain inaccuracies or typographical errors. Ultimately, if you have concerns about your health, particularly RYR-1 related diseases, you should consult your health care provider.