Hypermobility syndrome (HM) or benign joint hypermobility syndrome (BJHS) is a hereditary connective tissue disorder seen in the pediatric age group. Some authors have defined joint hypermobility syndrome (JHS) as a condition which includes individuals with hypermobile joints accompanied by symptoms of unknown etiology [1] [2] [3]. Other authors state that hereditary connective tissue disorders may be associated with JHS and "benign JHS" are used to differentiate it from other more life-threatening connective tissue disorders like Ehlers Danlos syndrome (EDS), Marfan syndrome, and Loeys Dietz syndrome [4]. According to Simpson [5], JHS is currently considered an inherited connective tissue disorder with features similar to those of Marfan syndrome and Ehlers Danlos syndrome type 3, hypermobility type.

Hypermobility syndrome is transmitted in an autosomal pattern. The penetrance is variable [6] with a majority of the patients having no identifiable collagen protein abnormalities although a few may have a deficiency of tenascin-X [5]. There is often a family history of the syndrome.

Although symptoms can start at any age, they are typically noticed in childhood and adolescence. Females are affected more than males. The presenting complaint is usually severe, debilitating pain, which is aggravated by activity e.g pain in the lower limbs while walking or difficulty writing in school. Children report "cracking" joints, swelling in the joints (especially knees and ankles) lasting for several days, recurrent joint subluxations or dislocations which reduce spontaneously. Exercise, excessive movement and joint stress are believed to cause the chronic joint pain. A backache is another common symptom, especially in the lumbar region as it is the most mobile part of the vertebral column. Other common symptoms include myalgia, cramps, and stiffness of the joints [7]. Affected patients claim to be double jointed and can voluntarily subluxate.

• Pain

  There were significant improvements in self-efficacy, pain catastrophising, depression, anxiety, frustration, impact of pain and average pain intensity (all P [ncbi.nlm.nih.gov]

  Typically, children have self-limited pain in multiple joints; however, pain can last for a prolonged time and may become constant in adulthood. [web.archive.org]

• Inflammation

  Inflammation Inflammation is the body's response to infection, irritation or injury, which causes redness, swelling, pain and sometimes a feeling of heat in the affected area. [hse.ie]

  […] specifically stressed a particular joint and created an inflammation, HMS patients do not respond to anti-inflammatory medication. [dynamicchiropractic.com]

  Arthritis is a disorder in the joints that causes severe inflammation and pain. [wikihow.com]

  Joint complaints in these patients are not thought to be due to inflammation, so the use of NSAIDs for anything other than pain is disputed. 7, 8, 14 For moderate or severe pain, rest and abstaining from aggravating activities may improve symptoms. [web.archive.org]

• Limb Pain

  Musculoskeletal pain in 2 or more limbs, recurring daily for at least 3 months 2. Chronic, widespread pain for ≥3 months 3. Recurrent joint dislocations or frank joint instability, in the absence of trauma (a or b) a. [rarediseases.info.nih.gov]

  Other symptoms that may occur are are joint stiffness, myalgia, muscle cramps, and nonjoint limb pain. There might be a history of double-jointedness or recurrent dislocations in the family. [boneandspine.com]

  Chronic joint/limb pain. Positive family history along with molecular confirmatory tests. [jmgims.co.in]

  Consequently, pain usually occurs later in the day and morning stiffness is uncommon. Less common symptoms are joint stiffness, myalgia, muscle cramps, and nonarticular limb pain. [web.archive.org]

• Surgical Procedure

  Generally, when there has been no surgical or medical intervention for 6 months after the last definitive surgical procedure, it can be concluded that maximum therapeutic benefit has been reached. [ssa.gov]

  procedures, since wound healing may be compromised If surgery becomes necessary, then taking precautions against bleeding before, during, and after the procedure or surgery Proper counseling and medical care for women before and during pregnancy, as [dovemed.com]

  For example, there have been reports of local anaesthetic used during a surgical procedure not having an effect in people with joint hypermobility syndrome. [your.md]

• Rigor

  Longer term, rigorous multi-centre randomised controlled trials are warranted to begin to assess the clinical and cost-effectiveness of interventions for children and adults with BJHS. [ncbi.nlm.nih.gov]

  Although early studies indicated an increased incidence of MVP in affected patients, more recent investigations that used rigorous echocardiographic criteria for the diagnosis of MVP have questioned this association. [jmgims.co.in]

• Pharyngitis

  Nevertheless, clinicians should also assess shoulders, cervical spine, and pharyngeal joints. More importantly, Dr. Grahame told his audience, “We should be aware that nonarticular symptoms are common.” [the-rheumatologist.org]

• Muscle Rigidity

  The oxygen therapy is maintained as well as the L-Carnitine for their action on muscles, because cutting down this part of the treatment lead to an increase in muscular pain. [symbiosisonlinepublishing.com]

• Arthritis

  Arthritis Rheum. 2004;50:2640–2644.) Figure 1. Questions physicians should ask patients to detect benign joint hypermobility syndrome. (Reproduced with permission from Hakim AJ, Cherkas LF, Grahame R, Spector TD, MacGregor AJ. [jaoa.org]

  Since the symptoms of hypermobility can sometimes mimic arthritis, you may need to get lab tests to make sure your child doesn’t have a more serious disorder (such as juvenile arthritis or other inflammatory conditions). [webmd.com]

  The third was an elderly female who presented with knee joint osteoarthritis (OA) and apparent but reducible deformities of hands mimicking rheumatoid arthritis (RA). [ncbi.nlm.nih.gov]

  Arthritis Rheum 2004;50(8):2640-4. 3. Prockop DJ, Kivirikko KI. Collagens: molecular biology, diseases, and potentials for therapy. Annu Rev Biochem 1995;64:403-34. 4. Handler CE, Child A, Light ND, Dorrance DE. [tihcij.com]

• Arthralgia

  We report two cases of siblings presenting coexisting non-radiographic axial spondyloartrhritis and joint hypermobility syndrome, complaining of back pain with morning stiffness, enthesitis, peripheral arthralgia, high erythrocyte sedimentation rate and [ncbi.nlm.nih.gov]

  Its major criteria are a Beighton score of 4/9 or greater and arthralgia, but the diagnosis can also be based on the presence of minor criteria, including abnormal skin and joint (sub)luxations. [ard.bmj.com]

  People with HS can suffer from subluxations and dislocations. [9] Diagnostic Procedures Brighton criteria Major Criteria: Beighton Score of ≥ 4/9 Arthralgia for > 3 months in > 4 joints Minor Criteria: Beighton score of 1–3 Arthralgia in 1–3 joints History [physio-pedia.com]

• Joint Swelling

  Children report "cracking" joints, swelling in the joints (especially knees and ankles) lasting for several days, recurrent joint subluxations or dislocations which reduce spontaneously. [symptoma.com]

  While some children may have no symptoms, others may have joint and muscle pains or mild joint swelling in the late afternoon or evening or after exercise. These aches and pains are more common in the knees, elbows, and calf and thigh muscles. [rheumatology.org]

  Joint pain and swelling after unaccustomed activity can be reduced with anti-inflammatory drugs such as naproxen, diclofenac, ibuprofen, or etoricoxib. [jmgims.co.in]

  swelling [2] Clumsiness [2] Enhanced flexibility [3] Chronic pain [3] Little changes of the skin [8], [3] Greater risk in failures in tendon, ligament, bone, skin and cartilage [4] Functional gastro-intestinal disorders [5] Chronic headache [3], [5] [physio-pedia.com]

  swelling or morning stiffness. [ped-rheum.biomedcentral.com]

• Neck Pain

  This is especially true in patients with headache, neck pain and back pain, and pinched nerves in the neck, back, arms, and legs. Symptoms Associated with Hypermobility Syndromes: Headache. [neurokc.com]

  Three years ago I was a fit active 23 year old when I was in a car accident that has left me with chronic debilitating neck pain. I have seen multiple doctors/specialists, chiropractors, RMTs, physiotherapists, and the list goes on. [trimetricsphysio.com]

  Neck pain that can lead to chronic headaches and is usually associated with a crackling or grinding sensation (crepitus). The spine may end up in a "round back" or inversely may extend too much into hyperlordosis. [en.wikipedia.org]

  Neck pain and backache – This can be a problem if your spine is particularly supple and the muscles around your spine aren't working to support it correctly. [arthritisresearchuk.org]

  […] muscle aches and pains because your muscles have to work harder with supple joints back pain and neck pain a tendency to bruise easily pain that gets worse through the day and better at night, after you have rested fatigue (extreme tiredness) night pains [your.md]

• Morning Stiffness

  We report two cases of siblings presenting coexisting non-radiographic axial spondyloartrhritis and joint hypermobility syndrome, complaining of back pain with morning stiffness, enthesitis, peripheral arthralgia, high erythrocyte sedimentation rate and [ncbi.nlm.nih.gov]

  Consequently, pain usually occurs later in the day and morning stiffness is uncommon. Less common symptoms are joint stiffness, myalgia, muscle cramps, and nonarticular limb pain. [web.archive.org]

  Pain is mostly self-limiting but may tend to be more persistent by the passing years. [7] In contrast to arthritic disorders; morning stiffness is not a feature of hypermobility syndrome. [jmgims.co.in]

• Striae Distensae

  Unexplained striae such as striae distensae or rubrae at the back, groins, thighs, breasts and/or abdomen in adolescents, men or prepubertal women without a history of significant gain or loss of body fat or weight 4. [rarediseases.info.nih.gov]

• Headache

  and the Role of Hypermobility in Headache Disorders .) [neurokc.com]

  The migraines that have plagued me since childhood were high up the list so I booked an appointment with a neurologist who specializes in headaches. [yogainternational.com]

  Because patients have a high rate of concomitant fatigue, headaches, orthostatic hypotension, anxiety, and abdominal and genitourinary complaints, identifying these patients and providing a more appropriate, unifying diagnosis is important. [amjmed.org]

  Some ANS symptoms that may become apparent in JHS include: - Chronic fatigue - Headaches - Dizziness and/or blurry vision - Poor ability to concentrate - Reduced response to anesthetic agents - Heart palpitations - Blood pressure dysregulation - Nausea [backinmotion.com.au]

  Poor wound healing – Abnormal scarring – Chronic fatigue – Chronic pain – Cardiac abnormalities – Foot deformities – TMJ dysfunction – Low muscle tone – Hernias – Early osteoarthritis and degenerative discs – Various GI problems and allergies – Chronic headaches [edswellness.org]

• Stroke

  Unsuspected causes of stroke in young people can be identified, and secondary stroke prevention therapy initiated. The true causes of headache syndromes can be identified. [neurokc.com]

  Balancing on one leg -resistance bands [2] However there are exercises that should be avoided these include: Exercise that includes excessive stretching [9] Sports with high collision risks such as hockey and football [8] It is best to avoid breast stroke [en.wikibooks.org]

  FTAA are associated also with increased risk of early coronary disease and strokes. They are caused by a mutation in the TGFBR1, TGFBR2, MYH11, MYLK, PRKG1 or ACTA2 gene, with the latter being the most common one. [rheumatologyadvisor.com]

  Hurdlers must have a wide range of movement at the hip, and swimmers, particularly those using butterfly stroke, need a wide range of movement at the shoulder. [web.archive.org]

  Your doctor will be cautious about prescribing NSAIDs if you may be at increased risk of heart attack or stroke. Painkillers and NSAIDs are also available as sprays or creams which you can apply directly to the painful joint. [arthritisresearchuk.org]

• Radiculopathy

  Under this section, loss of function may be due to bone or joint deformity or destruction from any cause; miscellaneous disorders of the spine with or without radiculopathy or other neurological deficits; amputation; or fractures or soft tissue injuries [ssa.gov]

• Urinary Incontinence

  The aim of our study was to determine whether lower urinary tract symptoms (LUTS), including urinary incontinence (UI) and anterior compartment prolapse, are more common in women with BJHS than in the normal population. [ncbi.nlm.nih.gov]

  a type of urinary incontinence that occurs because the pelvic floor muscles are too weak to prevent urination low blood pressure (hypotension), which may lead to fainting hernias - an internal part of the body, such as an organ, pushes through a weakness [hse.ie]

  – a type of urinary incontinence that occurs because the pelvic floor muscles are too weak to prevent accidental urination hernias – an internal part of the body, such as an organ, pushes through a weakness in the muscle or surrounding tissue wall varicose [your.md]

The condition is often misdiagnosed as young children normally have an extensive range of motion at all their joints. The "Beighton score" has been used to diagnose hypermobility but the scores are variable depending on investigators. So currently the Villefranche classification [8] which includes clinical signs, family history, major and minor criteria is used for diagnosis. The major criteria are joint hyperlaxity, skin hyperextensibility, and no evidence of skin or soft tissue fragility. The minor criteria are a family history of the syndrome, recurrent joint instability, and the ability to bruise easily. Limitation of the Villefranche classification is that it does not account for extra-musculoskeletal manifestations.

The workup depends upon a detailed patient history, family history of joint hypermobility syndrome and thorough physical examination to look for hypermobile joints and signs of tissue fragility. Genetic testing may be useful in the diagnosis of the syndrome. Radiograph findings include small calcifications in the subcutaneous tissues. Magnetic resonance imaging can help to detect white matter lesions [9].

As gene mutations have not been identified as yet, prenatal testing cannot be recommended. However genetic counseling should be considered if there is a family history.

• HLA-A3

  Hemochromatosis is a genetic disease related to human leukocyte antigen (HLA) A3, B7, and B14 histocompatability antigens resulting in increased iron absorption from the gastrointestinal tract and deposition of iron in tissues. [ncbi.nlm.nih.gov]

Treatment and Outcome in JHS 3.i. Treatment of JHS in most respects is the same as other conditions of chronic widespread pain, dysautonomia and anxiety / depression. [web.archive.org]

For these reasons it is vital for an accurate diagnosis and specific treatment plan. [trimetricsphysio.com]

A physical therapist who is well-versed in the treatment of BHJS or other joint disorders. [moveforwardpt.com]

The purpose of this case report is to present the patient examination, evaluation/diagnosis/prognosis, intervention, and outcome of a patient with hypermobility syndrome (HMS). [ncbi.nlm.nih.gov]

What is the Prognosis of Ehlers-Danlos Syndrome, Hypermobility Type? (Outcomes/Resolutions) The prognosis of Ehlers-Danlos Syndrome, Hypermobility Type is determined by the severity of the disorder and overall health of the affected individual. [dovemed.com]

Some authors have defined joint hypermobility syndrome (JHS) as a condition which includes individuals with hypermobile joints accompanied by symptoms of unknown etiology. [symptoma.com]

Despite this, it is likely underdiagnosed by physicians due to its highly variable clinical presentation, absence of a confirmatory test, and controversies regarding its etiology and pathogenesis. [amjmed.org]

Etiology: It appears to be a genetically linked disorder of connective tissue. This is suggested by a strong family history. Family members may be asymptomatic yet exhibit the same connective tissue findings on examination. [rheumaknowledgy.com]

(Etiology) It is believed that Ehlers-Danlos Syndrome, Hypermobility Type is caused by genetic mutations. In most cases, the exact cause for the disorder is not known. In some cases, however, mutation(s) in the TNXB gene lead to this disorder. [dovemed.com]

An overview of the etiologic explanation of the association between JH and anxiety, with special focus on genetic findings, is also included. [doi.org]

The genetic epidemiology of joint hypermobility: A population study of female twins. Arthritis Rheum. 2004;50:2640–2644.) Figure 1. Questions physicians should ask patients to detect benign joint hypermobility syndrome. [jaoa.org]

[…] higher. 2 Epidemiological studies suggest that patients of all races and age groups are affected, although it is more prevalent in children and adolescents, who tend to have greater mobility of joints. 3 Generalized joint hypermobility, that is, the [amjmed.org]

The genetic epidemiology of joint hypermobility: a population study of female twins. Arthritis Rheum 2004;50(8):2640-4. 3. Prockop DJ, Kivirikko KI. Collagens: molecular biology, diseases, and potentials for therapy. [tihcij.com]

Epidemiology of Generalized Joint Laxity (Hypermobility) in Fourteen-Year-Old Children From the UK:A Population-Based Evaluation.2011(Level of Evidence: 2B) ↑ 8.0 8.1 8.2 8.3 8.4 8.5 8.6 8.7 8.8 Celletti C. [physio-pedia.com]

Epidemiology of musculoskeletal pain in primary care. Arch Dis Child. 2004;89(5):431–4. PubMed Central View Article PubMed Google Scholar Gunz AC, Canizares M, Mackay C, Badley EM. [ped-rheum.biomedcentral.com]

We review the literature regarding the pathophysiology, diagnosis, treatment options, and prognosis of joint hypermobility syndrome, and advocate for primary care physicians to consider it in the differential diagnosis of patients with chronic pain. [ncbi.nlm.nih.gov]

Reflections on the pathophysiology We estimate that the alteration in proprioception plays a large part in the clinical manifestation of EDS. [symbiosisonlinepublishing.com]

Pathophysiology of Benign Joint Hypermobility Syndrome Why do some people have symptoms with hypermobile joints. [boneandspine.com]

Evaluating patients for hypermobility in routine rheumatologic examination will prevent unnecessary diagnostic studies and treatments. [ncbi.nlm.nih.gov]

Is it possible to prevent joint hypermobility syndrome? Because joint hypermobility syndrome is inherited, it is not preventable. [rxlist.com]

Ehlers-Danlos Syndrome, Hypermobility Type is a genetic disorder, and currently, there are no methods or guidelines available to prevent its occurrence. [dovemed.com]

1. Remvig L, Jensen DV, Ward RC. Epidemiology of general joint hypermobility and basis for the proposed criteria for benign joint hypermobility syndrome: review of the literature. J Rheumatol. 2007;34:804–9.
2. Kirk JA, Ansell BM, Bywaters EG. The hypermobility syndrome. Musculoskeletal complaints associated with generalized joint hypermobility. Ann Rheum Dis. 1967;26:419–25.
3. Simmonds JV, Keer RJ. Hypermobility and the hypermobility syndrome. Man. Ther. 2007;12:298–309.
4. Cattalini M, Khubchandani R, Cimaz R. When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children. Pediatr Rheumatol Online J. 2015; 13:40
5. Simpson MR. Benign joint hypermobility syndrome: evaluation, diagnosis, and management. J Am Osteopath Assoc 2006;106:531-6.
6. Hakim AJ, Cherkas LF, Grahame R, Spector TD, MacGregor AJ. The genetic epidemiology of joint hypermobility: a population study of female twins. Arthritis Rheum. 2004;50:2640–2644.
7. Malfait F, Hakim AJ, De Paepe A, Grahame R. The genetic basis of the joint hypermobility syndromes. Rheumatology. 2006;45(5):502–7.
8. Beighton P, De Paepe A, Steinmann B, et al. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J. Med Genet. 1998 Apr 28;77 (1): 31-7
9. Hamonet C, Frédy D, Lefèvre JH, Bourgeois-Gironde S, Zeitoun JD. Brain injury unmasking Ehlers-Danlos syndromes after trauma: the fiber print. Orphanet J Rare Dis. 2016 Apr; 22. 11:45.