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Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ability. The severity of these symptoms varies and can change throughout one's life to some extent.
Presynaptic symptoms include brief stops in breathing, weakness of the eye, mouth, and throat muscles. These symptoms often result in double vision and difficulty chewing and swallowing. Postsynaptic symptoms in infants include severe muscle weakness, feeding and respiratory problems, and delays in the ability to sit, crawl, and walk.
A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), [a] the neuromuscular junctions, or skeletal muscles, all of which are components of the motor unit. [4] Damage to any of these structures can cause muscle atrophy and weakness. Issues with sensation can also occur. Neuromuscular diseases can be acquired or ...
Congenital fiber-type disproportion can cause contractures as well as lordosis or scoliosis. Approximately 30% of people with this disorder have mild to severe respiratory issues due to weakness of breathing muscles. Some people with these breathing issues need noninvasive mechanical ventilation at night and on
Neuromuscular junction diseases are a result of a malfunction in one or more steps of the above pathway. As a result, normal functioning can be completely or partially inhibited, with the symptoms largely presenting themselves as problems in mobility and muscle contraction as expected from disorders in motor end plates.
Weakness of the eye muscles is uncommon. Some may have double vision, drooping of the eyelids and difficulty swallowing, [4] but generally only together with leg weakness; this too distinguishes LEMS from myasthenia gravis, in which eye signs are much more common. [3] In the advanced stages of the disease, weakness of the respiratory muscles ...
Benign acute childhood myositis (BACM) is a syndrome characterized by muscle weakness and pain in the lower limbs that develop in children after a recent viral illness. It is transient with a spontaneous clinical resolution within 1 week.
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 ( myotonia ) and rigidity . [ 1 ]