Living with Collagen 6-related myopathy
A group of muscle and joint conditions, from severe weakness in infancy to milder weakness and stiffness later in life.
Understanding Collagen 6-related myopathy
On the more severe end, babies have muscle weakness, low muscle tone, a tilted neck (torticollis) and tight joints, and some do not develop the ability to walk. On the milder end, weakness, stiffness and very loose joints begin in childhood or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Muscle weakness
- Low muscle tone (hypotonia)
- Tight joints (contractures)
- Tilted neck (torticollis)
- Stiffness
- Very loose joints (joint hyperlaxity)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Cure CMD - Congenital Muscular Dystrophy
- 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
It is caused by changes in the COL6A1, COL6A2 or COL6A3 genes, which make collagen VI. The changes can be dominant or recessive.
Also known as: collagen vi-related dystrophy; collagen vi-related muscle disorder; collagen vi-related muscular dystrophy; collagen vi-related myopathy
Patient organizations
- Cure CMD - Congenital Muscular DystrophyCollagen 6-related myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Collagen 6-related myopathy.
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- Eligibility is confirmed by the study team
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