Living with Cylindrical spirals myopathy
A rare muscle condition present from birth that causes weakness, low muscle tone, and cramps.
Understanding Cylindrical spirals myopathy
Along with weakness, people may have low muscle tone (hypotonia), muscle stiffness after use (myotonia), and cramps. A muscle biopsy shows spiral-shaped structures inside muscle fibers. Some people also have an unusual walk, curved spine (scoliosis), seizures, or delayed development.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these features:
- Weakness in muscles throughout the body
- Low muscle tone (hypotonia)
- Muscle stiffness after use (myotonia)
- Muscle cramps
- Abnormal walk (gait)
- Curved spine (scoliosis)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Muscular Dystrophy Association 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: Muscular Dystrophy Association
- 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 Muscular Dystrophy Association
- 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
GARD says changes in genes (also called variants) cause this condition. It doesn't list a specific gene.
Also known as: myotonic myopathy with cylindrical spirals
Patient organizations
- Muscular Dystrophy AssociationCylindrical spirals myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Cylindrical spirals myopathy.
Explore research for Cylindrical spirals myopathy
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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