Hypermobility spectrum disorder | |
---|---|
Other names | Hypermobility syndrome Joint hypermobility syndrome |
Hypermobile thumb | |
Specialty | Rheumatology, genetics |
Symptoms | Joint hypermobility, musculoskeletal pain, fatigue [1] |
Causes | Genetic [2] |
Hypermobility spectrum disorder (HSD), related to earlier diagnoses such as hypermobility syndrome (HMS), and joint hypermobility syndrome (JHS) is a heritable connective tissue disorder [3] that affects joints and ligaments. Different forms and sub-types have been distinguished, but it does not include asymptomatic joint hypermobility, sometimes known as double-jointedness.
Symptoms can include the inability to walk properly or for long distances, and pain in affected areas. Some people with HSD have hypersensitive nerves and a weaker immune system. It can also cause severe fatigue and some cases cause depressive episodes. It is somewhat similar to other genetic connective tissue disorders such as Ehlers–Danlos syndromes. There is a strong association between HSD and neurodevelopmental disorders such as attention deficit hyperactivity disorder and autism spectrum disorder. [4]
Hypermobility spectrum disorders are diagnosed when individuals have symptomatic joint hypermobility but do not meet the criteria for other connective tissue disorders, such as Ehlers–Danlos syndrome. [5]
The term "hypermobility spectrum disorder" was coined in 2017 after criteria for hypermobile Ehlers–Danlos syndrome were made more restrictive. In part, this classification change was designed to address the overlap between joint hypermobility syndrome and what was then known as Ehlers–Danlos syndrome, hypermobility type (EDS-HT), which some researchers believed were the same condition. [6] [7] [8] While hypermobility spectrum disorders are most analogous to JHS, the 2017 diagnostic criteria for hypermobile Ehlers–Danlos syndrome excludes many people who fit the old criteria, who would instead be diagnosed with hypermobility spectrum disorders. [9]
Hypermobility syndrome and hypermobility spectrum disorders do not include people with asymptomatic hypermobility or people with double-jointedness but no other symptoms. Hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders may be equally severe. [5] [8]
Some common symptoms of hypermobility spectrum disorder include:
Other symptoms can appear and not everyone affected experiences the same symptoms.
Being diagnosed with hypermobility syndrome can be a difficult task. There is a lack of wide understanding of the condition and it can be considered a zebra condition. As hypermobility syndrome can be easily mistaken for being double-jointed or categorised as nothing more than perhaps an achy body from lack of exercise, medical professionals may diagnose those affected incorrectly and not adequately investigate the symptoms. Due to these circumstances many affected individuals can live not knowing they have it. As a result, those affected without a proper diagnosis can easily injure themselves and not take proper care to ensure they go about working safely.
The Beighton Score can be used to determine generalised joint hypermobility (GJH) related to hypermobility syndrome. [10] The newer term "generalised hypermobility spectrum disorder" includes people with generalised joint hypermobility, often determined using the Beighton Score, and other symptoms. Those who do not meet the Beighton Score criteria may be diagnosed with historical joint hypermobility spectrum disorder, peripheral hypermobility spectrum disorder, or localised hypermobility spectrum disorder. [8]
In comparison to the diagnostic criteria of hypermobile Ehlers–Danlos syndrome, the criteria for hypermobile spectrum disorder are less strict. However, these criteria are differentiated from criteria of other EDS types and therefore its less-strict criteria are only comparable to the criteria of hEDS. As those with HSD experience a considerable amount of discomfort, it is important to focus on the treatment, not the labels. The severity of each condition can be equivalent. In particular, musculoskeletal involvement is a requirement for diagnosis with any form of hypermobility spectrum disorder but not for hypermobile Ehlers–Danlos syndrome. Like hypermobile Ehlers–Danlos syndrome, hypermobility spectrum disorders are associated with orthostatic tachycardia, gastrointestinal disorders, and pelvic and bladder dysfunction. [11]
Treating hypermobility syndrome can be difficult. The condition has no direct cure, but its symptoms can be treated. Physiotherapy, particularly exercise, is the main treatment for the condition, although there is only limited evidence for its effectiveness. [12]
Treatments for pain include:
Prevalence of the condition is unknown, but can be high in those attending musculoskeletal services. [7] [13]
Myalgia or muscle pain is a painful sensation evolving from muscle tissue. It is a symptom of many diseases. The most common cause of acute myalgia is the overuse of a muscle or group of muscles; another likely cause is viral infection, especially when there has been no injury.
Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective-tissue disorders. Symptoms often include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis. The current classification was last updated in 2017, when a number of rarer forms of EDS were added.
Rheumatology is a branch of medicine devoted to the diagnosis and management of disorders whose common feature is inflammation in the bones, muscles, joints, and internal organs. Rheumatology covers more than 100 different complex diseases, collectively known as rheumatic diseases, which includes many forms of arthritis as well as lupus and Sjögren's syndrome. Doctors who have undergone formal training in rheumatology are called rheumatologists.
Malouf syndrome is a congenital disorder that causes one or more of the following symptoms: intellectual disability, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis, and bone abnormalities, and occasionally marfanoid habitus.
Connective tissue disease, also known as connective tissue disorder, or collagen vascular diseases, refers to any disorder that affect the connective tissue. The body's structures are held together by connective tissues, consisting of two distinct proteins: elastin and collagen. Tendons, ligaments, skin, cartilage, bone, and blood vessels are all made of collagen. Skin and ligaments contain elastin. The proteins and the body's surrounding tissues may suffer damage when these connective tissues become inflamed.
Ligamentous laxity, or ligament laxity, is a cause of chronic body pain characterized by loose ligaments. When this condition affects joints in the entire body, it is called generalized joint hypermobility, which occurs in about ten percent of the population, and may be genetic. Loose ligaments can appear in a variety of ways and levels of severity. It also does not always affect the entire body. One could have loose ligaments of the feet, but not of the arms.
Peter H. Beighton was a British-born South African medical geneticist. He is known for inventing the Beighton Scale for joint hypermobility.
Hypermobility, also known as double-jointedness, describes joints that stretch farther than normal. For example, some hypermobile people can bend their thumbs backwards to their wrists and bend their knee joints backwards, put their leg behind the head or perform other contortionist "tricks". It can affect one or more joints throughout the body.
Sack–Barabas syndrome (SBS) is an older name for vascular Ehlers–Danlos syndrome (vEDS). It is a medical condition, a subset of Ehlers–Danlos syndrome which especially affects the body's vascular system, including blood vessels and organs, and makes them prone to rupture.
Small fiber peripheral neuropathy is a type of peripheral neuropathy that occurs from damage to the small unmyelinated and myelinated peripheral nerve fibers. These fibers, categorized as C fibers and small Aδ fibers, are present in skin, peripheral nerves, and organs. The role of these nerves is to innervate some skin sensations and help control autonomic function. It is estimated that 15–20 million people in the United States have some form of peripheral neuropathy.
Hitchhiker's thumb, also known as distal hyperextensibility of the thumb, is the condition of having a thumb that has a distal phalange that bends backwards in an angle of 90°. This condition is benign and does not cause pain or affect the thumb with the trait negatively.
Winchester syndrome is a rare hereditary connective tissue disease described in 1969, of which the main characteristics are short stature, marked contractures of joints, opacities in the cornea, coarse facial features, dissolution of the carpal and tarsal bones, and osteoporosis. Winchester syndrome was once considered to be related to a similar condition, multicentric osteolysis, nodulosis, and arthropathy (MONA). However, it was discovered that the two are caused by mutations found in different genes; however they mostly produce the same phenotype or clinical picture. Appearances resemble rheumatoid arthritis. Increased uronic acid is demonstrated in cultured fibroblasts from the skin and to a lesser degree in both parents. Despite initial tests not showing increased mucopolysaccharide excretion, the disease was regarded as a mucopolysaccharidosis. Winchester syndrome is thought to be inherited as an autosomal recessive trait.
Marfanoid is a constellation of signs resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity.
Genu recurvatum is a deformity in the knee joint, so that the knee bends backwards. In this deformity, excessive extension occurs in the tibiofemoral joint. Genu recurvatum is also called knee hyperextension and back knee. This deformity is more common in women and people with familial ligamentous laxity. Hyperextension of the knee may be mild, moderate or severe.
De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa as well as other eye, musculoskeletal, and neurological abnormalities. It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria.
Daniel Browning Smith, also known as The Rubberboy, is an American contortionist, actor, television host, comedian, sports entertainer, and a stuntman, who holds the title of the most flexible person in history, owning a total of seven Guinness World Records. Smith owes his flexibility to the genetic condition hypermobile Ehlers–Danlos syndrome.
Nevo syndrome is a rare autosomal recessive disorder that usually begins during the later stages of pregnancy. Nevo syndrome is caused by a NSD1 deletion, which encodes for methyltransferase involved with chromatin regulation. The exact mechanism as to how the chromatin is changed is unknown and still being studied. Nevo syndrome is an example of one of about twelve overgrowth syndromes known today. Overgrowth syndromes are characterized with children experiencing a significant overgrowth during pregnancy and also excessive postnatal growth. Studies concerning Nevo syndrome have shown a similar relation to Ehlers–Danlos syndrome, a connective tissue disorder. Nevo syndrome is associated with kyphosis, an abnormal increased forward rounding of the spine, joint laxity, postpartum overgrowth, a highly arched palate, undescended testes in males, low-set ears, increased head circumference, among other symptoms.
The Ehlers–Danlos Society is an international nonprofit organization dedicated to patient support, scientific research, advocacy, and increasing awareness for the Ehlers–Danlos syndromes (EDS) and hypermobility spectrum disorder (HSD). The society has organized multiple events around the world in an attempt to raise awareness for EDS and HSD. These events include a rally in Baltimore's Inner Harbor, and a conference in India. The society also organizes symposiums dedicated to research on EDS and HSD. The 2016 symposium resulted in the reclassification of Ehlers–Danlos subtypes. Ehlers-Danlos Society has collaborated with XRP Healthcare to offer a Prescription Savings Card, providing up to 80% off medications for EDS and HSD, including pain relievers and muscle relaxants. Accepted at over 68,000 U.S. pharmacies, including Walmart, CVS, and Walgreens, this partnership offers significant savings.
Craniocervical instability (CCI) is a medical condition characterized by excessive movement of the vertebra at the atlanto-occipital joint and the atlanto-axial joint located between the skull and the top two vertebra, known as C1 and C2. The condition can cause neural injury and compression of nearby structures, including the brain stem, spinal cord, vagus nerve, and vertebral artery, resulting in a constellation of symptoms.
Amplified musculoskeletal pain syndrome (AMPS) is an illness characterized by notable pain intensity without an identifiable physical cause.