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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]
Restless legs syndrome (RLS), (also known as Willis–Ekbom disease (WED), is a neurological disorder, usually chronic, that causes an overwhelming urge to move one's legs. [ 2 ] [ 10 ] There is often an unpleasant feeling in the legs that improves temporarily by moving them. [ 2 ]
Rhythmic movement disorder differs from Restless Legs Syndrome in that RMD involves involuntary contractions of muscles with no urge or uncomfortable sensation to provoke such movement. Additionally, 80-90% of individuals with Restless Legs Syndrome show periodic limb movements as observed on a polysomnogram, which are not common in RMD patients.
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 ...
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In adjunct with surgery, refractory muscle contracture can also be treated with Botulinum toxins A and B; however, the effectiveness of the toxin is slowly lost over time, and most patients need a single treatment to correct muscle contracture over the first few weeks after surgery. [21] Shortening of the surgically lengthened muscle can re-occur.
Individual demonstrates lack of finger contractures, thus lack of Bethlem sign, by being able to make full contact of palms and fingers with elbows raised. Bethlem myopathy is a slowly progressive muscle disease characterized predominantly by contractures, rigidity of the spine, skin abnormalities and proximal muscle weakness.
Additional tests include the Ober test to detect iliotibial band contracture, where the patient lies on their side and the examiner attempts to abduct, extend, and then adduct the leg. A positive test occurs with inability to adduct the leg due to iliotibial band shortening. The Thomas test is used to detect excessive tightness of the ...
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