Living with Benign Samaritan congenital myopathy
A rare genetic muscle condition with floppy muscles at birth that gradually improves in the first two years.
Understanding Benign Samaritan congenital myopathy
Newborns can have breathing trouble, delays in motor milestones, and certain facial features, such as a narrow forehead, folds at the inner eye corners, and wide-set eyes. Muscle tone and weakness gradually improve within the first two years of life. Few signs remain in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone throughout the body (hypotonia)
- Delayed motor milestones
- Weak cry
- Weaker reflexes
- Narrow forehead and wide-set eyes
- Folds at the inner corners of the eyes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in RYR1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
RYR-1 Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: RYR-1 Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with RYR-1 Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the RYR1 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Patient organizations
- RYR-1 FoundationBenign Samaritan congenital myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Benign Samaritan congenital myopathy.
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