نتایج جستجو برای: myotonia
تعداد نتایج: 1446 فیلتر نتایج به سال:
Non-dystrophic myotonia (NDM) is a group of rare mono-genetic muscle disorders caused by skeletal sodium or chloride channelopathies. These are characterized high tone and the inability muscles to relax spontaneously after voluntary contraction. Myotonia congenita refers form NDM that typically manifests during later stages childhood. It occurs as result genetic mutations affecting channels fou...
Fourteen patients with paramyotonia congenita were examined clinically. Patients of 3 families had no myotonia in a warm environment while in a cold environment they developed paradoxical myotonia (myotonia aggravated by repeated muscle contraction). Patients of a 4th family had myotonia associated with after-activity in a warm environment which was not paradoxical. This myotonia was aggravated...
INTRODUCTION Myotonia Congenita is an inherited myotonia that is due to a mutation in the skeletal muscle chloride channel CLCN1. These mutations lead to reduced sarcolemmal chloride conductance, causing delayed muscle relaxation that is evident as clinical and electrical myotonia. METHODS We report the clinical presentations of two individuals with Myotonia Congenita (MC). RESULTS Patient ...
Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chloride and sodium ion channels with considerable phenotypic overlap between diseases. Few prospective studies have evaluated the sensitivity of symptoms and signs of myotonia in a large cohort of patients. We performed a prospective observational study of 95 participants with definite or clinically suspected non...
Clinical bedside tests to provoke myotonia, such as eyelid closure, handgrip, and percussion myotonia, help to diagnose and differentiate myotonic disorders and prevent delayed genetic confirmation. Sodium channelopathies present with predominantly myotonia of the ocular muscles. In these cases, testing for myotonia of the upper eyelid and extraocular muscles could be of decisive diagnostic val...
A patient with subclinical hypothyroidism who presented with true myotonia is described. There was no evidence that either he or members of his family had dystrophia myotonica or myotonia congenita. Treatment with thyroxine resolved his symptoms completely.
THOMSEN'S disease (myotonia congenita), dystrophia myotonica (myotonia atrophica), and paramyotonia are characterized by the presence of myotonia. As an isolated symptom, myotonia had already been described by Benedikt (1874) and Leyden (1874) when Thomsen (1876) published his paper (following the refusal by the Prussian army medical officers of a certificate of the disease in one of his sons),...
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