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Rigid spine syndrome, also known as congenital muscular dystrophy with rigidity of the spine (CMARS), is a rare and often debilitating neuromuscular disorder.It is characterized by progressive muscle stiffness and rigidity, particularly in the spine, which can severely limit mobility and impact quality of life.
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]
Furthermore, muscle biopsy does not reveal any deficiency. [1] Walker–Warburg syndrome at the beginning a progressive weakness and low muscle tone at birth or during early infancy; small muscles; the majority of affected children do not live more than 3 years of age. Eye structure problems are present, with accompanying visual impairment.
Symptoms include stiffness [1] and sometimes muscle cramping [4] after exercise (pseudo-myotonia) [5] and especially when exposed to cold. The most commonly affected muscles are in the arms, legs, and eyelids. [1] [4] Individuals with Brody myopathy also sometimes experience weakness, [4] myalgia, and rhabdomyolysis. [1]
Gowers's sign, toe walking, multiple contractures of the joints (especially the fingers: 'Bethlem sign'), skin abnormalities, and muscle weakness (proximal more than distal) are typical signs and symptoms of the disease. Initially, in early childhood, there may also be joint laxity.
Cerebral palsy (CP) is a group of movement disorders that appear in early childhood. [1] Signs and symptoms vary among people and over time, [1] [3] but include poor coordination, stiff muscles, weak muscles, and tremors. [1] There may be problems with sensation, vision, hearing, and speech. [1]
In other words, your body burns a lot of calories to keep muscle around, so if you’re not actively using it, your body will let it go to conserve energy for more essential functions.
Hypotonia is a state of low muscle tone [1] (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength.