نتایج جستجو برای: myotonia
تعداد نتایج: 1446 فیلتر نتایج به سال:
A 7-month-old New Forest foal presented for episodes of recumbency and stiffness with myotonic discharges on electromyography. The observed phenotype resembled congenital myotonia caused by CLCN1 mutations in goats and humans. Mutation of the CLCN1 gene was considered as possible cause and mutation analysis was performed. The affected foal was homozygous for a missense mutation (c.1775A>C, p.D5...
PATIENTS WITH NONDYSTROPHIC MYOTONIAS TYPIcally have myotonia as an isolated symptom, without muscular wasting, although the patient’s myotonia may be associated with muscle weakness and fatigue or transient attacks of paralysis. Episodes of myotonia may be triggered by cold (paramyotonia congenita), potassium (potassium aggravated myotonia), or exercise (Thompson and Becker myotonia). Most cas...
An 11-month-old girl presented with episodic severe stridor from birth, often resulting in cyanosis. Her parents had noted recurrent unilateral ptosis. Later she developed spasms of her hands during exercise. Psychomotor development was normal. Neurologic examination showed generalized hypertonia. Cerebral MRI excluded a Chiari malformation. Laryngoscopy under general anesthesia showed no abnor...
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