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The adult-onset form of this syndrome is Hoffmann syndrome. [3] Some sources claim that two of the differentiating symptoms between KDSS and Hoffmann syndrome is that Hoffmann syndrome lacks painful spasms and pseudomyotonia; [ 1 ] [ 4 ] however, this claim is in conflict with other sources that list these symptoms as also being present in ...
Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder.The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles and rigidity. [1]
Symptoms onset any time from birth to adulthood. [5] The earlier the disease onset, the greater the variety of possible signs and symptoms. [citation needed] Thus, various diagnostic classifications based on the age of onset/severity of the disease have been proposed, although DM1 manifestations likely lie on a continuum. [7]
A myotome is the group of muscles that a single spinal nerve innervates. [1] Similarly a dermatome is an area of skin that a single nerve innervates with sensory fibers. Myotomes are separated by myosepta (singular: myoseptum). [2] In vertebrate embryonic development, a myotome is the part of a somite that develops into muscle.
Hoffmann syndrome is a rare form of hypothyroid myopathy and is not to be confused with Werdnig-Hoffmann disease (a type of spinal muscular atrophy). It was first documented in 1897 by Johann Hoffmann. [1] It has adult-onset symptoms and is comparable to the childhood-onset Kocher–Debré–Semelaigne syndrome.
This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness. [5] Those with Parsonage–Turner experience acute, sudden-onset pain radiating from the shoulder to the upper arm. Affected muscles become weak and atrophied, and in advanced cases, paralyzed. Occasionally, there will be no pain and just paralysis, and ...
The lifter stands erect, hands about shoulder width apart, and slowly raises the shoulders as high as possible, and then slowly lowers them, while not bending the elbows, or moving the body at all. [2] The lifter may not have as large a range of motion as in a normal shrug done for active flexibility. It is usually considered good form if the ...
Diagnosis is suspected based on symptoms and X-rays with confirmation by genetic testing. [4] Other conditions that can produce similar symptoms include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, and Hajdu-Cheney syndrome. [5] Treatment includes supportive measures such as a device to protect the skull and dental care. [5]