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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]
Bethlem myopathy 2 also differs by including the possibility of scapula winging, pectus excavatum, stooped posture, kyphosis (hunchback), micrognathia, retrognathia, and a high-arched palate. [14] Childhood muscle weakness improves in teen years, but muscle weakness returns by the third decade of life. [11]
Splint for the left little (pinky) finger of a 7-year-old child. If a contracture is less than 30 degrees, it may not interfere with normal functioning. [7] The common treatment is splinting and occupational therapy. [12] Surgery is the last option for most cases as the result may not be satisfactory. [13]
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 ...
Dupuytren's contracture of the right little finger. Arrow marks the area of scarring. Typically, Dupuytren's contracture first presents as a thickening or nodule in the palm, which initially can be with or without pain. [11] Later in the disease process, which can be years later, [12] there is increasing loss of range of motion of the affected ...
[4] [16] As a result of frequent tissue injury, there can be an early onset of advanced osteoarthritis, [45] chronic degenerative joint disease, [45] swan-neck deformity of the fingers, [46] and Boutonniere deformity of the fingers. Tendon and ligament laxity offer minuscule protection from tearing in muscles and tendons, but these problems ...
A "dominant" abnormality will exert its abnormal influence (e.g., causing a disease or medical condition) regardless of whether the other copy of the gene is normal or not. Within centronuclear myopathies, researchers have identified an autosomal dominant form at a gene called dynamin 2 (DNM2) on chromosome 19 , and this particular condition is ...
Body muscles are weakened, and the respiratory system is a major concern as are muscle contractures and spinal curvature. Life expectancy is reduced, even as most people with SMA 2 live well into adulthood even without treatment. 253550: SMA 3 (Juvenile) Kugelberg–Welander disease >12 months