Hypermobile Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the least severe form of Ehlers-Danlos syndrome (EDS) although significant complications can occur.
Common symptoms include joint hypermobility, affecting both large (elbows, knees) and small (fingers, toes) joints; soft, smooth skin that may be slightly elastic (stretchy) and bruises easily; and chronic musculoskeletal (muscles and bones) pain. Although hypermobile EDS is thought to be a genetic condition, the exact underlying cause is unknown in most cases. A small percentage of people with this condition have a change (mutation) in the TNXB gene. Most cases of hypermobile EDS, are inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
The signs and symptoms of hypermobile Ehlers-Danlos syndrome vary but may include:
- Joint hypermobility affecting both large (elbows, knees) and small (fingers, toes) joints
- Frequent joint dislocations and subluxations (partial dislocation), often affecting the shoulder, kneecap, and/or temporomandibular joint (joint that connects the lower jaw to the skull)
- Soft, smooth skin that may be slightly elastic (stretchy) and bruises easily
- Chronic musculoskeletal (muscle and bone) pain
Treatment of hypermobility syndrome
The treatment of hypermobile Ehlers-Danlos syndrome depends on the signs and symptoms present in each person. For example, physical and occupational therapy is often recommended to strengthen muscles and improve joint stability. Assistive devices such as braces, wheelchairs, or scooters may be necessary depending on the severity of joint instability. Pain medications may be prescribed to manage severe musculoskeletal (muscle and bone) pain. Affected people may be monitored for the development of osteopenia (low bone density) and aortic root dilatation (enlargement of the blood vessel that distributes blood from the heart to the rest of the body).
Don’t let a hypermobility syndrome affect your quality of life any longer! If you are looking to find relief for your discomfort, contact our Carle Place & Manhattan therapy office today to schedule an appointment and meet with one of our dedicated team members. Hand In Hand Rehabilitation will be happy to get you back to living the healthy and physically active life you deserve!