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Congenital contractural arachnodactyly (CCA), also known as Beals–Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. [1] As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes. [2]
Spine contractures in the form of progressive scoliosis occurs and occasionally contracture of neck musculature also known as torticollis. [10] Joint looseness Contractures can be associated with distal joint laxity of the upper extremities (wrists and fingers) and of the lower extremities (ankle and toes). [10] Fatty infiltration of muscle
Children born with one or more joint contractures have abnormal fibrosis of the muscle tissue causing muscle shortening, and therefore are unable to perform active extension and flexion in the affected joint or joints. [2] AMC has been divided into three groups: amyoplasia, distal arthrogryposis, and syndromic (is a syndrome or part of a syndrome).
In pathology, a contracture is a shortening of muscles, tendons, skin, and nearby soft tissues that causes the joints to shorten and become very stiff, preventing normal movement. [ 1 ] [ 2 ] A contracture is usually permanent, but less commonly can be temporary (such as in McArdle disease ), [ 3 ] or resolve over time but reoccur later in life ...
These can cause congenital contractures, including clubfoot, in distal arthrogryposis (DA) syndromes. [27] Clubfoot can also be present in people with genetic conditions such as Loeys–Dietz syndrome and Ehlers–Danlos syndrome. [28] Genetic mapping and the development of models of the disease have improved understanding of developmental ...
Ménière's disease causes hearing fluctuations in the affected ear. During an episode of vertigo, hearing loss typically worsens and the ability to hear clearly in the affected ear may be ...
Bethlem myopathy 1 is a rare disease, affecting about 1 in 200,000 people. [8] Bethlem myopathy 2 is an ultra-rare disease, affecting less than 1 in 1,000,000 people. [9] The condition was described by J. Bethlem and G. K. van Wijngaarden in 1976. [10]
“The event or death may have been related to the underlying disease being treated, may have been caused by some other product being used at the same time, or may have occurred for other reasons.” The Times story also cited a buprenorphine study by researchers in Sweden that looked at “100 autopsies where buprenorphine had been detected.”