Conditions
Myopathic Ehlers-Danlos syndrome (mEDS)
A rare type of EDS with low muscle tone or small muscles from birth, stiff knees, hips or elbows, and loose finger joints.
About Myopathic EDS
Myopathic Ehlers-Danlos syndrome (mEDS) is a rare condition that affects both muscles and connective tissue. It is linked to the COL12A1 gene. It is usually passed from one parent to a child, and less often comes from a gene change in both parents.
Babies often have low muscle tone or small muscles, and this usually gets better with age. In some adults, strength gets weaker again later. Large joints near the body, such as the knees, hips and elbows, may be stiff and not fully straighten. Joints of the hands and feet often bend further than most people's. Skin may be soft, and scars may be thin.
A clinical geneticist usually makes the diagnosis, sometimes working with a muscle specialist. A genetic test of COL12A1 is the main test. A muscle biopsy or muscle scan is sometimes used. Some other muscle conditions look similar, so clinicians may test for them too.
Before a visit, it helps to record muscle tone and walking as a child, and how strength has changed. Stiff or loose joints, scars, and muscle test reports are useful too.
Who usually evaluates it: Usually a clinical geneticist, sometimes working with a muscle specialist (neuromuscular neurologist).
What you can record in Selihc Health
- Low muscle tone or small muscles as a baby, and when you sat and walked
- Weak muscles, and how your strength has changed over the years
- Stiff joints, such as knees, hips or elbows that do not fully straighten
- Soft skin and scars, with photos
- Your own check of how far your joints bend and of thin muscles, labeled as self-reported
- Muscle test and genetic test reports, with the findings and genes they name
What only a clinician can do
- Examining muscle strength, tone and joints
- Muscle biopsy and muscle imaging
- Deciding on genetic testing of COL12A1, checking for related muscle conditions, and explaining the result
In an emergency
Call 911 for severe trouble breathing. Do not drive yourself.
The published criteria
Your summary organizes your records against these sources, for your clinician to review. What clinicians see
Myopathic Ehlers-Danlos syndrome: 2017 international classification
Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26. doi:10.1002/ajmg.c.31552
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This page is general information written for patients, not medical advice. Content is a draft awaiting clinical review.
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