Myopathic Ehlers-Danlos

Myopathic Ehlers-Danlos (mEDS) can be inherited by either an autosomal dominant or recessive pattern with mutations being heterozygous or biallelic mutations in COL12A1. muscle hypotonia is characteristically evident at birth with muscles that do not function properly (myopathy). It shared many features with another form of EDS called Kyphoscoliotic type which needs to be ruled out. 

 

Minimal criteria to suggest a mEDS diagnosis require the first major criterion plus either: one other major, or three minor criteria. Molecular testing is required to confirm a diagnosis.

Major Criteria:

1. Congenital muscle hypotonia, and/or muscle atrophy, that improves with age;

2. Proximal joint contractures (knee, hip and elbow); and 

3. Hypermobility of distal joints

Minor Criteria

1. Soft, doughy skin;

2. Atrophic scarring;

3. Motor developmental delay;

4. Myopathy on muscle biopsy. 

For more information see The Ehlers-Danlos Society

References

The 2017 International Classification of the Ehlers–Danlos Syndromes