Overview
Benign Samaritan congenital myopathy is a very rare inherited muscle disease that is present from birth or early childhood. 'Congenital' means it is present at birth, and 'myopathy' means it affects the muscles. This condition belongs to a group of diseases called congenital myopathies, which cause muscle weakness and low muscle tone (sometimes called 'floppy baby' syndrome) from a very early age. The word 'benign' in the name reflects that, compared to some other congenital myopathies, the disease course tends to be relatively stable and non-progressive or only slowly progressive in many patients, meaning the muscle weakness does not worsen dramatically over time for most people. The main features include muscle weakness, particularly in the muscles closest to the center of the body (like the hips, shoulders, and trunk), reduced muscle tone, and sometimes breathing difficulties. Some children may have delayed motor milestones, such as sitting up or walking later than expected. Facial muscles can also be affected in some cases, leading to a distinctive facial appearance. There is currently no cure for Benign Samaritan congenital myopathy. Treatment focuses on managing symptoms and improving quality of life. This includes physical therapy to maintain strength and mobility, respiratory support if breathing is affected, and orthopedic care for complications like scoliosis. A team of specialists works together to support patients throughout their lives. Research into this and related congenital myopathies is ongoing.
Key symptoms:
Muscle weakness, especially in the shoulders, hips, and trunkLow muscle tone (floppy muscles) from birth or early infancyDelayed motor milestones such as late sitting, standing, or walkingDifficulty climbing stairs or rising from the floorReduced exercise tolerance and easy fatigueBreathing difficulties, especially during sleep or illnessWeak facial muscles, which may cause a flat or expressionless appearanceScoliosis (curved spine) in some patientsDifficulty swallowing in some casesFoot deformities such as clubfoot in some newborns
Clinical phenotype terms (19)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Benign Samaritan congenital myopathy.
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Specialists
View all specialists →No specialists are currently listed for Benign Samaritan congenital myopathy.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Benign Samaritan congenital myopathy.
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Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What gene is responsible for this condition in my family, and should other family members be tested?,How often should my breathing be monitored, and what signs should prompt me to seek urgent care?,What therapies — physical, occupational, or respiratory — do you recommend, and how often should we do them?,Are there any clinical trials or research studies I or my child could participate in?,What should I watch for that might indicate the condition is getting worse?,Are there any activity restrictions, or are there exercises that are particularly helpful or harmful?,What support services or patient organizations are available to help our family?
Common questions about Benign Samaritan congenital myopathy
What is Benign Samaritan congenital myopathy?
Benign Samaritan congenital myopathy is a very rare inherited muscle disease that is present from birth or early childhood. 'Congenital' means it is present at birth, and 'myopathy' means it affects the muscles. This condition belongs to a group of diseases called congenital myopathies, which cause muscle weakness and low muscle tone (sometimes called 'floppy baby' syndrome) from a very early age. The word 'benign' in the name reflects that, compared to some other congenital myopathies, the disease course tends to be relatively stable and non-progressive or only slowly progressive in many pati
How is Benign Samaritan congenital myopathy inherited?
Benign Samaritan congenital myopathy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Benign Samaritan congenital myopathy typically begin?
Typical onset of Benign Samaritan congenital myopathy is neonatal. Age of onset can vary across affected individuals.