SearchMyopathic EDS (mEDS)
Please note: The following text cannot and should not replace advice from the patient's healthcare professional(s). Any person who experiences symptoms or feels that something may be wrong should seek individual, professional help for evaluation and/or treatment. This information is for guidance only and is not intended to provide individual medical advice.
What is mEDS?
mEDS is an incredibly rare type of EDS and symptoms include muscle atrophy, congenital muscle hypotonia, hand hypermobility and joint contractures.
What is the cause of mEDS?
mEDS is caused by variations in a person’s genes. mEDS is caused by variations in the COL12A1 gene.
How is mEDS diagnosed?
When diagnosing mEDS a list of common and relevant signs and symptoms of the condition are used. This is referred to as diagnostic criteria and in the case of mEDS it is split into a set of major and minor criteria.
The Major criteria
- Congenital muscle hypotonia, and/or muscle atrophy, that improves with age
- Proximal joint contractures (knee, hip, and elbow)
- Hypermobility of distal joints
The Minor criteria
- Soft, doughy skin
- Atrophic scarring
- Motor developmental delay
- Myopathy on muscle biopsy
To meet the diagnostic criteria for mEDS a person must have:
Major criterion 1 (Congenital muscle hypotonia, and/or muscle atrophy, that improves with age)
Plus
Either: one other major criterion
And/or: three minor criteria
If a person meets the criteria a genetic test is done to confirm the diagnosis. You can read more about genetic testing for the rare types of EDS here.
How is mEDS managed?
mEDS is managed through addressing the symptoms a person is experiencing. This is best done through being in the care of the NHS National EDS service; a specialised service for adults and children who have or are suspected to have a rare type of EDS.
For information about the service and for referral eligibility please click on the following links:
EDS National Diagnostic Service (based in London) covering the South of England
EDS National Diagnostic Service (based in Sheffield) covering the North of England