Additional Information
The Ehlers-Danlos syndromes are a group of connective tissue disorders that can be inherited and are varied both in how they affect the body and in their genetic causes. They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility.
The Ehlers-Danlos syndromes (EDS) are currently classified into thirteen subtypes. Each EDS subtype has a set of clinical criteria that help guide diagnosis; a patient’s physical signs and symptoms will be matched up to the major and minor criteria to identify the subtype that is the most complete fit. There is substantial symptom overlap between the EDS subtypes and the other connective tissue disorders including hypermobility spectrum disorders, as well as a lot of variability, so a definitive diagnosis for all the EDS subtypes when the gene mutation is known—all but hypermobile EDS (hEDS)—also calls for confirmation by testing to identify the responsible variant for the gene affected in each subtype.
For those who meet the minimal clinical requirements for an EDS subtype—but who have no access to molecular confirmation; or whose genetic testing shows one (or more) gene variants of uncertain significance in the genes identified for one of the EDS subtypes; or in whom no causative variants are identified in any of the EDS-subtype-specific genes—a “provisional clinical diagnosis” of an EDS subtype can be made. These patients should be followed clinically, but alternative diagnoses and expanded molecular testing should be considered.
Please remember that an individual’s experience with an EDS is their own, and may not necessarily be the same as another person’s experience. Diagnostic criteria are meant solely to distinguish an EDS from other connective tissue disorders, and there are many more possible symptoms for each EDS than there are criteria.[LINK]
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As you can see from the images pulled from HER OWN YouTube videos there is not much physically wrong with her ability to 'Dance' or in this case 'Break Dance (i think)' on the floor, or other images from other videos that clearly show her 'Dancing' in other areas and at other times. Clearly against the details shown and empirically documented with respect to EDS.
In March 2017, the International Consortium on Ehlers-Danlos Syndromes and Related Disorders released in the American Journal of Medical Genetics (Part C: Seminars in Medical Genetics) the work of more than two years: 245 pages of the first examination of EDS in almost 20 years, as well as articles about the various conditions that so frequently come along in someone with EDS. The supplement is intense, dense reading, written by top experts. But what about those of us who don’t have the time or background to delve into the scientific language — the newly-diagnosed person with EDS, our families and friends, journalists and students who want a quick understanding, even doctors, nurses, physical therapists, technicians who need a fast read before an appointment?
Cardiovascular Autonomic Dysfunction in hEDS
Chronic Fatigue in hEDS & HSD
Clinical Assessment Methods for Classifying Generalized JH
Evidence-Based Rationale for Physical Therapy Treatment
Framework for the Classification of Joint Hypermobility
Gastrointestinal Involvement in EDS
Hypermobile EDS: Clinical Description and Natural History
Mast Cell Disorders in EDS
Neurological and Spinal Manifestations of EDS
Oral and Mandibular Manifestations in EDS
Orthopedic Management of EDS
Pain Management in EDS
Psychiatric and Psychological Aspects in EDS
KC's Own Personal Diagnosis is Hypermobile EDS or hEDS
Hypermobile EDS (formerly categorized as type 3) is mainly characterized by hypermobility that affects both large and small joints. It may lead to frequent joint subluxations (partial dislocations) and dislocations. In general, people with this variant have skin that is soft, smooth, and velvety and bruises easily, and may have chronic muscle and/or bone pain. It affects the skin less than other forms. It has no available genetic test. Hypermobility EDS (hEDS) is the most common of the 19 types of connective tissue disorders. Since there is no known genetic test, providers have to diagnose hEDS based on what they already know about the condition and the physical attributes that the patient shows. Other than the general signs, attributes can include faulty connective tissues throughout the body, musculoskeletal issues, and family history. Along with these general signs and side effects, patients can have trouble healing.
Women who are pregnant should be warned about things such as pre-labor rupture of membranes, drop in blood pressure with anesthesia, precipitate birth (very fast active labor), malposition of bleeding, and more. New mothers with hEDS should pay extra attention to taking care of their new baby. Mothers may have trouble taking care of the baby because of the risk of dropping the baby due to weak connective tissue in arms and legs, falling, postpartum depression (more than the general population), and healing from the birthing process.
People with Hypermobile EDS may have:
- joint hypermobility
- loose, unstable joints that dislocate easily
- joint pain and clicking joints
- extreme tiredness (fatigue)
- skin that bruises easily
- digestive problems, such as heartburn and constipation
- dizziness and an increased heart rate after standing up
- problems with internal organs, such as mitral valve prolapse or organ prolapse
- problems with bladder control (stress incontinence).
Currently there are no tests to confirm whether someone had hEDS.
The diagnosis is made based on a person's medical history and a physical examination.