Understanding Hypermobility: What Is It, How It Presents, and Clinical Diagnosis
What is Hypermobility?
Hypermobility refers to joints that move beyond the normal range of motion, which can occur in different forms:
Generalized: Affecting multiple joints across the body.
Peripheral: Localized to areas like the hands or feet.
Localized: Limited to specific joints, often due to genetics, trauma, or training
Historical: Previously hypermobile but not anymore.
Symptomatic vs. Asymptomatic Hypermobility
Any of the types of hypermobility mentioned above can be either symptomatic or asymptomatic. Symptomatic hypermobility may be a sign of a hereditary connective tissue disorder or hypermobility spectrum disorder (HSD). Connective tissue, which provides structure and support to ligaments, tendons, skin, organs, and blood vessels, can be affected in disorders like:
Hypermobile Ehlers-Danlos syndrome (hEDS) (one of 13 types of EDS)
Marfan syndrome
Loeys-Dietz syndrome
It’s important to note that hEDS currently lacks a genetic test, making diagnosis reliant on clinical criteria.
Prevalence
The estimated prevalence of generalized joint hypermobility varies widely, from 6% to 57% in females. Of those, about 10% are estimated to have hEDS or a joint hypermobility spectrum disorder.
Clinical Diagnosis of Hypermobility
Beighton Score is a widely used tool to assess joint hypermobility. The scoring system varies by age and sex. The cutoffs listed below are for women.
6+ for children (up to skeletal maturity)
5+ for adults (until age 50)
4+ for adults over 50
Scoring elements include touching the floor with straight legs, hyperextension of the elbows and knees, the ability to touch the thumb to the forearm, and hyperextension of the pinky finger.
In addition, the Hakim and Grahame 5-point questionnaire helps assess historical joint hypermobility.
For diagnosing hEDS, doctors will also look for other signs such as skin hyperextensibility, atrophic scarring, and positive wrist (Walker) or thumb (Steinberg) signs.
Possible Symptoms
Joints:
Instability, pain, subluxation, and dislocation (including in the neck, which can increase fall risk).
Gastrointestinal:
Acid reflux, nausea, and feeling full after small meals.
Autonomic Nervous System:
Orthostatic intolerance, POTS (Postural Orthostatic Tachycardia Syndrome), and Raynaud’s phenomenon.
Neurological:
Proprioceptive deficits, balance issues, and links to conditions like autism spectrum disorder or ADHD.
Immunological:
Mast cell activation disorder, chemical sensitivities, and persistent fatigue.
Dermatological:
Hyperextensible skin, poor healing, and easy scarring.
Respiratory:
Asthma-like symptoms and, in some cases, mitral valve prolapse.
Understanding hypermobility and its potential implications is key to managing symptoms and improving quality of life. If you suspect hypermobility, consult a healthcare professional for appropriate assessment and management strategies.
References:
Callahan, A. (n.d.). Management of hypermobility in Aesthetic Performing Artists. https://www.orthopt.org/uploads/Management_of_Hypermobility.pdf
Simmonds, J. V. (2022). Masterclass: Hypermobility and hypermobility related disorders. Musculoskeletal Science and Practice, 57, 102465. https://doi.org/10.1016/j.msksp.2021.102465