Search results
Results from the WOW.Com Content Network
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]
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 ...
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 ...
Adhesions and fibrosis are made of dense fibrous tissue, which are strong and supportive, helping to prevent the injury or micro-injury from reoccurring. However, the fibrotic scar tissue causes the muscle tissue to become stuck together which restricts movement, causing pain, weakness, and limited joint mobility. [15] [16] [17] [18]
CMD with brain-eye, also called muscle-eye-brain disease, [19] is a rare form of congenital muscular dystrophy (autosomal recessive disorder) causing a lack of normal muscle tone which can delay walking due to being weak, also paralysis of eye muscles and intellectual disability which affects an individual's way of processing information. [19]
From 2019 to 2021, U.S. life expectancy dropped from 78.8 years to 7 6.4. Covid deaths fell significantly last year: Whereas Covid was the fourth leading cause of death in 2022, it was the 10th in ...
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 ...