Společnost C-M-T

Balance and motor disturbances are significant symptoms commonly associated with hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT). Although CMT is a progressive neurological disease, comprehensive physiotherapeutic strategies may improve balance and motor patterns, and, therefore, enhance the quality of life (ADL). > celý článek <

Mutations in genes expressed in Schwann cells and the axons they ensheathe cause the hereditary motor and sensory neuropathies, also known as Charcot-Marie-Tooth disease (CMT). More than 40 different genes have been shown to cause inherited neuropathies; chromosomal localizations of many other distinct inherited neuropathies have been mapped, and new genetic causes for inherited neuropathies continue to be discovered. > celý článek <

Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine–Sottas neuropathy starting in infancy. The clinical spectrum, however, reaches beyond the boundaries of these two historically defined disease entities. > celý článek <

Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, presenting with symptoms often occurring since childhood, and showing a progressive course. At present, there are no valid and reliable measures for evaluation of impairment and disability in the pediatric population. > celý článek <

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We would like to thank to all patients from different part of Czech Republic, who participated on study in 2007-2009 and they successfully completed it. There were a total of 51 in three centers - University Hospital Motol in Prague, General Hospital in Prague and Faculty Hospital in Brno. > celý článek <

Charcot-Marie-Tooth (CMT) is a clinically and genetically heterogeneous group of diseases characterized by progressive muscle weakness, atrophies, and sensory loss affecting the distal extremities. Patients are categorized into demyelinating (CMT1) and axonal (CMT2) forms depending on motor nerve conduction velocities (MNCVs). MNCV of the median nerve are below 38m=s in the group of CMT1. In the CMT2 group, they are above 38m=s (Harding and Thomas, 1980). Some patients show values between these two clusters and are classified as intermediate (Nicholson and Nash, 1993). > celý článek <

Mutations in the myelin protein zero (MPZ) gene are one of the frequent causes of Charcot-Marie-Tooth (CMT) hereditary neuropathies. Because the mutation rate of MPZ gene is rather high and some mutations are reported as polymorphisms, the proper clinical, electrophysiological examination and the segregation of the new mutation in larger families are crucial for the correct interpretation of the pathogenic or non-pathogenic character of each novel mutation. > celý článek <