Overview
Cylindrical spirals myopathy is an extremely rare muscle disorder classified under congenital myopathies. It gets its name from unusual structures called "cylindrical spirals" that are found inside muscle fibers when a muscle biopsy is examined under an electron microscope. These spiral-shaped structures are abnormal collections of proteins within the muscle cells and are the hallmark feature used to identify this condition. People with cylindrical spirals myopathy typically experience muscle weakness, muscle stiffness, cramping, and exercise intolerance. The severity can vary widely from person to person. Some individuals have mild symptoms such as occasional muscle cramps and fatigue, while others may experience more significant weakness that affects daily activities. Muscles throughout the body can be involved, though the limb muscles are most commonly affected. Because this condition is so rare, with only a handful of cases described in the medical literature, there is no specific cure or targeted treatment available. Management focuses on relieving symptoms and maintaining muscle function through physical therapy, pain management, and supportive care. Research into the underlying cause of this condition is still ongoing, and the exact genetic basis has not been fully established in all cases.
Key symptoms:
Muscle weaknessMuscle crampsMuscle stiffnessExercise intoleranceFatigue after physical activityMuscle pain (myalgia)Difficulty with prolonged physical activityReduced muscle bulk in some casesDifficulty climbing stairs or rising from a chairGeneral tiredness
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Cylindrical spirals myopathy.
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Specialists
View all specialists →No specialists are currently listed for Cylindrical spirals 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 Cylindrical spirals 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 specific findings were seen on my muscle biopsy?,Should I undergo genetic testing, and what might it reveal?,What types of physical activity are safe for me, and what should I avoid?,How often should I have follow-up appointments to monitor my condition?,Are there any medications that could help with my muscle cramps or stiffness?,Should my family members be tested or evaluated?,Are there any clinical trials or research studies I could participate in?
Common questions about Cylindrical spirals myopathy
What is Cylindrical spirals myopathy?
Cylindrical spirals myopathy is an extremely rare muscle disorder classified under congenital myopathies. It gets its name from unusual structures called "cylindrical spirals" that are found inside muscle fibers when a muscle biopsy is examined under an electron microscope. These spiral-shaped structures are abnormal collections of proteins within the muscle cells and are the hallmark feature used to identify this condition. People with cylindrical spirals myopathy typically experience muscle weakness, muscle stiffness, cramping, and exercise intolerance. The severity can vary widely from per