Ehlers-Danlos Syndrome (EDS) is an overarching genetic disorder that refers to 13 heritable connective tissue disorders. Each type of EDS has its own genetic mutation, inheriting pattern and symptoms.
Broadly speaking, these genetic mutations affect connective tissues; specifically, the tissue structure and function of collagen in the skin. This, in turn, impacts the strength and elasticity of various tissues throughout the body .
Naturally, the presence of EDS can significantly impact a person’s quality of life. But how much of an impact will depend on the specific type and severity of EDS.
The most common and least severe type of EDS is hypermobile EDS, which impacts fewer than 200,000 people in the US . Even so, this birth defect can cause significant health complications, including joint hypermobility to both large and small joints, skin elasticity and chronic musculoskeletal pain.
Additionally, the 13 subtypes of Ehlers-Danlos Syndrome include :
- Classical EDS
- Classical-like EDS
- Cardiac-valvular EDS
- Vascular EDS
- Hypermobile EDS
- Arthrochalasia EDS
- Dermatosparaxis EDS
- Kyphoscoliotic EDS
- Brittle Cornea Syndrome
- Spondylodysplastic EDS
- Musculocontractural EDS (mcEDS)
- Myopathic EDS
- Periodontal EDS
Naturally, the exact signs and symptoms will vary depending on the subtype of EDS. Even so, common features across the various subtypes include:
- Joint hypermobility – Because connective tissue is much looser, patients often experience an increased range of motion in the joints, leading to frequent dislocations or subluxations.
- Skin abnormalities – Typically, skin is hyperextensible (able to stretch beyond 1.5 cm), prone to scarring and often resistant to stitches .
- Tissue fragility – The tissue of the body’s organs and various other structures is weak, which can lead to easy bruising and poor wound healing, especially when severely damaged.
- Pain – Patients often suffer from chronic pain in the muscles, joints or bones.
- Fatigue – Many subtypes are characterized by persistent, excessive tiredness.
EDS is a genetic disorder, meaning it’s passed down to the child from one or both of their parents. There are two primary patterns of inheritance :
- Autosomal dominant pattern (more common) – An affected individual has a 50% chance of passing the condition to their children.
- Autosomal recessive pattern (less common) – Both parents must carry the gene mutation for the condition to pass on to the child.
Although some symptoms of the disease may appear early in life (even in the womb), symptoms may start appearing at different times depending on the strain of EDS.
For some EDS patients, the uncomfortable symptoms of their genetic disorder may make it difficult to walk or perform normal daily activities. In such cases, a wheelchair may be necessary to aid mobility and help alleviate the physical symptoms.
At Quantum Rehab, our consumer-inspired rehab mobility power chairs are designed to deliver medical comfort while improving a person’s well-being and independence.
With more than 60,000 lives changed, including countless EDS patients, our mobility technologies can meet both your medical and clinical needs, as well as your quality-of-life needs.
Contact us today to discover more about our life-changing products.