X-linked Charcot–Marie–Tooth Disease
X-linked Charcot–Marie–Tooth disease is a group of genetic disorders and a type of Charcot–Marie–Tooth disease characterized by sensory loss associated with muscle weakness and atrophy alongside many other symptoms. Signs and symptoms Symptoms vary between subtypes, but generally they can be condensed into a basic summary: individuals with this condition have symptoms that, once present, progress over time (severity increases over time), these include: muscle weakness and muscle atrophy, atrophy of the distal extremities (mostly involving feet, legs, and the thenar eminence of the hands), loss of sensation of the distal limbs, loss of reflexes of the deep tendon, pes cavus, high-arched feet, and (less commonly) scoliosis. Symptoms that are less frequent among X-linked CMT disease patients include dysfunctions of the transient central nervous system which are associated with dysphagia, dysarthria, ataxia, generalized body weakness, aphasia, and somnolence. Severe cases ...
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Medical Genetics
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specia ...
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