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Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [3] [4] [5] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [6]
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 ...
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 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]
Often, every joint in a patient with arthrogryposis is affected; in 84% all limbs are involved, in 11% only the legs, and in 4% only the arms are involved. [4] Every joint in the body, when affected, displays typical signs and symptoms: for example, the shoulder (internal rotation); wrist (volar and ulnar); hand (fingers in fixed flexion and thumb in palm); hip (flexed, abducted and externally ...
The title of the world’s oldest person now belongs to Inah Canabarro Lucas, who is also 116 years old. She was born on June 8, 1908, in Rio Grande do Sul, Brazil. She was born two weeks after ...
We found the best technology for adults over 65 at CES this year. From AI aids to ‘aging in place’ smart home solutions, the annual tech show kept older users in mind.
Progressive muscular atrophy (PMA), also called Duchenne–Aran disease and Duchenne–Aran muscular atrophy, is a disorder characterised by the degeneration of lower motor neurons, resulting in generalised, progressive loss of muscle function.