Myopathic ehlers-danlos syndrome Q79.6

Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of hereditary connective tissue diseases whose main clinical features are overstretchability of the skin and hyperreflexia of the joints. Depending on the type of disease and the underlying gene mutations, vessels, muscles, ligaments, tendons and internal organs are also affected (Brinckmann J 2018).

So far, 19 gene mutations are known to trigger EDS. The various mutations lead to changes in the structure, production or processing of collagen or of proteins that interact with collagen. The frequency of occurrence in the population is assumed to be 1:5,000 to 1:10,000, making EDS a rare disease (orphan disease).

In the very rare myopathic Ehlers-Danlos syndrome, mutations in the COL12A1 gene, which is located on chromosome 6q13-q14, lead to EDS. Mutations in this gene lead to congenital muscular hypotonia and/or muscular atrophy that progresses with age. Proximal joint contractures and joint hypermobility of distal joints may occur (Brady et al. 2017).

Major symptoms:

• Neuromuscular system: congenital muscular hypotension, muscular atrophy, improvement with age
• Skeletal system: Proximal joint contractures of elbow, knee, hip, hypermobility of distal joints

Minor symptoms:

• Skin: Hyperelasticity, soft pasty skin, atrophic scars
• Neuromuscular system: delayed motor development Myopathy

Detection of the genetic defects;

Major symptom: Congenital muscular hypotension, which improves with age +

another major symptom

or

+ three further minor symptoms

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2. Brinckmann J (2018) Hereditary connective tissue diseases. In. Plewig et al. (Ed.) Braun-Falco`s Dermatology, Venerology and Allergology, Springer Reference Medizin S 883-890
3. Bowen et al (2017): Ehlers-Danlos syndrome, classical type. American Journal of Medical Genetics 175C:17-39
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