- Postów: 105
Odnośnie niestabilności w ZM i samej chorobie Marfana, tym razem posiłkując się źródłami anglojęzycznymi:
“Results. The prevalence of focal kyphosis was 16%. A large number of patients with Marfan Syndrome (54%) had increased atlantoaxial translation. The preadolescent Marfan population had a greater range of motion than either the adolescent or adult populations. The Marfan population has an increased radiographic prevalence of basilar impression (36%), and the odontoid height (3.69 ± 0.53 cm) was larger than reported norms (2.34 ± 0.22 cm). Cervical stenosis was rare, with 3% having a critical Torg ratio at C3 and 2% having a critical Torg ratio at C6. Neck pain frequency did not differ significantly from that of age-matched controls.
Conclusion. Based on the increased prevalence of several cervical bony and ligamentous abnormalities, patients with Marfan Syndrome were recommended to avoid sports with risks of high-impact loading of the cervical spine”.
“Hypermobility (type 3):Affects 1 in 10,000 to 15,000 and is caused by an autosomal dominant or autosomal recessive mechanism. Mutations in either of two separate genes (which are also involved in Vascular EDS and Tenascin-X deficiency EDS, respectively) may lead to this variant. Joint hypermobility is the hallmark of this type, with less severe skin manifestations. Joint instability and chronic musculoskeletal pain are common in this type”.
“Kyphoscoliosis (type 6): is an autosomal recessive defect due to deficiency of an enzyme called lysyl hydroxylase; it is very rare, with fewer than 60 cases reported. The kyphoscoliosis type is characterised by progressive curvature of the spine (scoliosis), fragile eyes, and severe muscle weakness”.
“Signs and symptoms – Muskuloskeletal:
Hyper-flexible joints (It is possible to be very flexible or have “double joints”, however, this is not the same as EDS.)
Unstable joints that are prone to: sprain, dislocation, subluxation and hyperextension
Early onset of advanced osteoarthritis
Chronic degenerative joint disease
Swan neck deformity of the fingers
Muscle fatigue that increases with use
Weak muscle tone (hypotonia) in infancy, which can delay the development of gross motor skills such as sitting, standing, and walking
Osteopenia (low bone density)
Stretchy ligaments and tendons
Tearing of tendons or muscles
Deformities of the spine, such as: Scoliosis (curvature of the spine), Kyphosis (a thoracic hump), Tethered spinal cord syndrome, Occipitoatlantoaxial hypermobility
Myalgia (muscle pain) and arthralgia (joint pain)”.