Roussy–Lévy Syndrome
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Roussy–Lévy Syndrome
Roussy–Lévy syndrome, also known as Roussy–Lévy areflexic dystasia, is a rare Disorder (medicine), disorder of humans that results in progressive atrophy, muscle wasting. It is caused by a mutation of the genes that code for proteins necessary for the functioning of the myelin sheath affecting the conductance of nerve signals and resulting in loss of muscles' ability to move. The condition affects people from infants through adults. Signs and symptoms Symptoms of the Roussy–Lévy syndrome mainly stem from damage and the resulting progressive muscle atrophy. Neurological damage may result in absent tendon reflexes (areflexia), some distal sensory loss and decreased excitability of muscles to galvanic and faradic stimulation. Progressive muscle wasting results in weakness of Anatomical terms of location#Proximal and distal, distal limb muscles (especially the peroneus, peronei), gait ataxia, pes cavus, postural tremors and static tremor of the upper limbs and foot deformi ...
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Disorder (medicine)
A disease is a particular abnormal condition that adversely affects the structure or function of all or part of an organism and is not immediately due to any external injury. Diseases are often known to be medical conditions that are associated with specific signs and symptoms. A disease may be caused by external factors such as pathogens or by internal dysfunctions. For example, internal dysfunctions of the immune system can produce a variety of different diseases, including various forms of immunodeficiency, hypersensitivity, allergies, and autoimmune disorders. In humans, ''disease'' is often used more broadly to refer to any condition that causes pain, dysfunction, distress, social problems, or death to the person affected, or similar problems for those in contact with the person. In this broader sense, it sometimes includes injuries, disabilities, disorders, syndromes, infections, isolated symptoms, deviant behaviors, and atypical variations of structure and ...
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