Panel 9: Hypermobility


Includes:

Ehlers-Danlos syndrome, osteogenesis imperfect other.

The proteins of connective tissues give the body its strength and intrinsic resistance. When are formed differently, the results are mainly noticed in the moving parts of the body (joints, muscles, tendons, cartilage, ligaments) that are looser and more fragile than would be normal. The result is joint hypermobility involved in vulnerability to the effects of injuries.

We are talking about hypermobility syndrome when there are a number of symptoms that accompany joint hypermobility. These symptoms are very diverse and are located both in the musculoskeletal (joint pain, sprains, dislocations and subluxations frequent, back pain, soft tissue injuries such as bursitis, epicondylitis, etc.) or outside it (mitral valve prolapse , varicose veins, fragile and thin skin, uterine prolapse and / or rectal, etc). Although symptoms are varied and not all people affected present the same degree of involvement, joint pain and / or muscle is usually the most important symptom.

Approximately 10% of the population has hypermobility. The prevalence varies among different ethnic groups and is higher among women. However, hypermobility syndrome (hypermobility + symptoms) affects only a minority of people with hypermobility.

NMG9: Hypermobility

Panel 9: Hypermobility

Included genes:

COL1A1 TNXB ZNF469 FBN1
COL5A1 COL3A1 ADAMTS2 FKBP10
COL5A2 COL5A3 CHST14 FKBP14
KIF22 COL3A1 BMP1 TNXB
B4GALT7 PLOD1 ALDH18A1 SP7
COL1A2 PLOD3 TMEM38B IFITM5
ATP7A FLNA SERPINF1 CRTAP
SLC2A10 COL6A1 PLOD2 LEPRE1
PPIB COL6A2 TGFB2
SERPINH1 COL6A3 SLC39A13

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