joint hypermobility disorders and syndromes

see also:

• collagen disorders

• people with joint hypermobility (JHM) have a higher ratio of collagen III to collagen I (28-46% cw normal of 18-21%)
• these people have a much higher degree of flexibility than normal but in general, cannot develop as much strength without very careful and rigorous training
• can result in flat feet from loss of the arch, easy joint dislocations, subluxations, osteoarthritis and many other issues

• 9 point Beighton score
  • Little finger dorsiflexion beyond 90° (left and right)
  • Thumb dorsiflexion to the flexor aspect of the forearm (left and right)
  • Elbow hyperextension beyond 10° (left and right)
  • Knee hyperextension beyond 10° (left and right)
  • Flat palms on the floor with a forward flexion of trunk and knees full extended
  • Score is positive if:
    • Children (age 6-16 years old) – 6 or more points
    • Adults up to age 50 – 5 or more points
    • Over 50 years – 4 or more points

• joint hypermobility
• joint and muscle pain
• muscle weakness
• unstable joints prone to dislocations or subluxations and injury
• poor proprioception – poor awareness of where a part of your body is, in relation to the rest of your body
• flat feet
• curvature of the spine
• temporomandibular joint (TMJ) dysfunction and pain and headaches, risk of TMJ dislocations

• local anaesthetics may not work well
• slow or poor wound healing
• easy bruising
• soft velvety, stretchy skin
• striae distensae
• scar tissue looks indented (atrophic scar)
• soft skin-coloured painful lumps to the heels (piezogenic papules)

• orthostatic intolerance including PoTS
  • in a Israel study, 78% of patients with JHM had orthostatic symptoms or POTS compared with 10% of controls¹⁾
  • 50% of patients with HSD and hEDS met the diagnostic criteria for PoTS
  • a survey of UK patients with PoTS identify 50% had a diagnosis of hypermobility
• low blood pressure
• mitral valve prolapse
• increased risk of aortic root dilatation

• gastro-oesophageal reflux
  • there is a significant association between JHM and GERD with those having a Beighton score > 6 having a 41x risk of GERD compared to those scoring < 4 ²⁾
• stomach pain, constipation, diarrhoea, feeling sick, food moving slowly through the gut
• herniae
• pelvic pain
• deep dyspareunia
• urinary incontinence
• organ prolapse in children, women who have not had children, and men

• anxiety, depression, panic disorder
• fatigue – mental and physical tiredness
• sleep problems
• headaches

• Hypermobility Spectrum Disorder (HSD)
  • probably a autosomal dominant trait³⁾ which affects up to 10-30% of males and females
• hypermobile Ehlers-Danlos Syndrome (hEDS)
  • skin hyperelasticity, hypermobility of joints, atrophic scarring, and fragility of blood vessels
  • increased risk of gastro-oesophageal reflux, spontaneous pneumothorax, aortic root dilation and other valvular dysfunction, unexplained sigmoid colon rupture
  • tend to also have chronic fatigue with poor sleep quality, chronic pain, physical deconditioning, orthostatic intolerance, headaches/migraines, and anxiety and/or depression
• Marfan's syndrome
  • aortic root enlargement, and ectopia lentis
• Loeys-Dietz syndrome (LDS)
  • identified in 2005
  • five types of the syndrome, labelled types I through V, which are distinguished by their genetic cause. Type 1, Type 2, Type 3, Type 4 and Type 5 are caused by mutations in TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3 respectively.
  • autosomal dominant however there is a new gene mutation in 75% of cases
  • skin cells are not able to produce collagen causing herniae
  • aneurysms in the aorta, often in children; high risk of aortic dissection;
  • tortuous arteries, hypertelorism (widely spaced eyes), wide or split uvula
  • may also have cleft palate, blue/gray appearance of the white of the eyes, club foot, pectus escavatum, pectus carinatum, kyphosis, scoliosis, craniosynostosis, long fingers, contractures of fingers and toes, strabismus, PDA, translucency of the skin with velvety texture, Arnold–Chiari malformation, bicuspid aortic valves, spontaneous pneumothorax

• genetic factors of hypermobile traits
  • transmissibility from parents to offspring for trunk flexibility is 48%
• gender and age
  • Hypermobility traits are 2 to 3 times more common among women compared to men and decline with aging
• flexibility training
  • becoming a contortionist also requires long and rigorous training often starting before 8yrs of age and requiring many hours each day and need to work harder than normal people to create sufficient strength to maintain positions without dislocating their joints or going into extreme, potentially damaging range of movements
  • during a stretch, it is primarily the muscular fibers that stretch, but the ligaments and tendons can stretch as well
  • increase of flexibility during the initial first few weeks of a new stretching exercise regime comes from a better pain tolerance under a greater traction force in the muscle
  • myofibrils can be stretched to twice their resting length without damage
  • warming the muscles will easily improve flexibility as a result of reduced viscosity and less resistance to stretch
  • nerves have the capacity to elongate between 6% and 20% of their resting length
  • regular stretching leads to an inhibition of the myotatic reflex in which muscles reflexly contract when stretched via a spinal neuronal arc reflex mechanism