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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.
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]
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]
Postsynaptic symptoms in infants include severe muscle weakness, feeding and respiratory problems, and delays in the ability to sit, crawl, and walk. Synaptic symptoms include early childhood feeding and respiratory problems, reduced mobility, curvature of the spine, and weakness, which causes a delay in motor milestones.
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.
“Your brain only needs to coordinate one muscle group, so the pathways form faster,” says Rothstein. Complex, multi-joint movements, like a barbell snatch, might take months—or even years ...
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]