myotonia congenita…

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superficial anterior muscles, thomsen's disease, myotonia congenita, inheritable congenital, present from birth, disorder characterized by slow relaxation of voluntary muscles, in the legs, myotonia congenita, either an autosomal dominant, autosomal recessive disease, the autosomal dominant form, a person only needs to inherit the mutation, one parent to be affected, inheriting the recessive form means a person must inherit the mutation from both parents to be affected, gene that causes, condition resides on chromosome 7, myotonia congenita is believed to be an abnormality, in the chloride channels of muscle cells, chloride ions, muscle to relax, abnormal chloride channels also cause an accumulation of potassium outside the cells, an activation of sodium channels, in the muscle cells, sodium ions trigger muscle contraction, cells have more than enough sodium but not enough chloride, abnormal repetitive electrical discharges cause a stiffness, myotonia, hallmark the myotonia, the inability, the muscle to quickly relax after voluntary contraction, after a handshake, individual is only very slowly able to open, disengage his hand, early symptoms, gagging, difficulty in swallowing, oropharyngeal muscles, slow to relax, initial movements stiff but improve, immediate repetition, children, myotonia congenita often, muscular, well-developed, not be symptoms of myotonia congenita, child is 2, 3 years old, a family history of myotonia congenita, an emg demonstrates myotonic potentials, a muscle biopsy, an absence of type 2b fibers, symptoms of myotonia congenita includes mexiletine, phenytoin, procainamide, quinine, people, symptoms only occur, a movement is first started, after a few repetitions, muscle relaxes, movement becomes normal, improve later in life, frequent choking, gagging, difficulty swallowing in an infant, aspiration pneumonia, related to swallowing difficulties, symptoms of myotonia congenita develop, genetic counseling of interest to prospective parents, a family history of myotonia congenita.