RYR-1 muscle disease

Common Name(s)

RYR-1 muscle disease

RYR-1 muscle disease refers to any muscle condition that is present at birth (congenital) and is caused by a mutation in the RYR-1 gene. Mutations in this gene are the most common cause of congenital myopathy (muscle weakness).

The RYR-1 gene, when functioning properly, is responsible for regulating the flow of calcium through the muscle. When the RYR-1 gene is changed due to an error (mutation), the calcium flow is impaired and causes abnormal muscle contractions as well as muscle weakness. Other symptoms such as breathing problems which may range from severe to non-existent, malignant hyperthermia (a potentially fatal reaction to anesthesia), muscle cramps and pains, inability to exercise, and heat intolerance have also been reported. Diagnosis of an RYR-1 muscle disease may be done through genetic testing, a muscle biopsy, or both. There is no cure for this condition, but research is underway.

RYR-1 muscle disease can be inherited in one of two ways from a parent who may or may not be affected. Sometimes an RYR-1 gene change is dominant which means that only one copy of the changed gene is needed to causes symptoms. In this case, an affected individual will have a 50% chance of passing on the gene change, and therefore the condition, to each of their children. In autosomal recessive inheritance, both copies of the gene must be changed for the person to have the condition and each of their children has a 25% chance of inheriting the gene change and therefore the condition. A genetic counselor can provide a better understanding of the inheritance and risks to future pregnancies.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "RYR-1 muscle disease" for support, advocacy or research.

The RYR-1 Foundation

The primary goal of the Foundation is to find a cure for RYR-1 related muscle diseases. To achieve this goal, the Foundation has several missions: 1) Support Research 2) Physician Education 3) Patient/family support and advocacy

Last Updated: 16 Mar 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "RYR-1 muscle disease" for support, advocacy or research.

The RYR-1 Foundation

The primary goal of the Foundation is to find a cure for RYR-1 related muscle diseases. To achieve this goal, the Foundation has several missions: 1) Support Research 2) Physician Education 3) Patient/family support and advocacy

http://www.ryr1.org

Last Updated: 16 Mar 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "RYR-1 muscle disease" returned 0 free, full-text research articles on human participants.

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Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "RYR-1 muscle disease" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Antioxidant Therapy in RYR1-Related Congenital Myopathy
 

Status: Recruiting

Condition Summary: Neuromuscular Disease

 

Last Updated: 8 Aug 2017

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Contractile Cross Sectional Areas and Muscle Strength in Patients With Inherited Muscle Diseases
 

Status: Recruiting

Condition Summary: Inherited Muscle Diseases; Congenital Myopathy; RYR1-myopathy

 

Last Updated: 11 Jan 2017

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Congenital Muscle Disease Study of Patient and Family Reported Medical Information
 

Status: Recruiting

Condition Summary: Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed); Dystroglycanopathy; Congenital Fiber Type Disproportion; Rigid Spine Muscular Dystrophy; Congenital Myopathy (Including Unspecified/Undiagnosed); Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy); Laminin Alpha 2 Related Congenital Muscular Dystrophy; LAMA2-CMD/Merosin Deficient/MDC1A; Walker-Warburg Syndrome; Muscle-Eye-Brain Disease; Fukuyama/Fukutin Related Muscular Dystrophy; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; LMNA-CMD/Lamin A/C/Laminopathy; SEPN1-Related Myopathy; Bethlem Myopathy; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Myopathy; Reducing Body Myopathy; Spheroid Body Myopathy; LGMD1B (LMNA); LGMD1E (DES); LGMD2G (TCAP); LGMD2H (TRIM32); LGMD2I (FKRP); LGMD2J (TTN); LGMD2K (POMT1); LGMD2M (FKTN); LGMD2N (POMT2); LGMD2O (POMGnT1); LGMD2P (DAG1); LGMD2Q (PLEC1); LGMD2R (DES); LGMD2S (TRAPPC11); LGMD2T (GMPPB); LGMD2U (ISPD); LGMD2V (GAA); Ullrich Congenital Muscular Dystrophy; Titinopathy; Choline Kinase B Receptor; Emery-Dreifuss Muscular Dystrophy; RYR1 Related Myopathy; SYNE1/Nesprin Related Muscular Dystrophy; Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap); Congenital Myasthenic Syndrome; Escobar Syndrome; Myofibrillar Myopathy; Malignant Hyperthermia; Alpha-Dystroglycan Related Muscular Dystrophy (DAG1, DPM1, DPM2, DPM3, FKRP, FKTN); Alpha-Dystroglycan Related Muscular Dystrophy (GAA, ISPD, LARGE, POMT1, POMT2, POMGnT1); Alpha-Dystroglycan Related Muscular Dystrophy (Unspecified/Undiagnosed/Other)

 

Last Updated: 5 May 2017

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