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Clinical and elektrophysiology longitudinal study of children with hereditary neurophathy Charlot-Marie-Tooth type 1A
Haberlová, Jana ; Seeman, Pavel (advisor) ; Syka, Josef (referee) ; Ambler, Zdeněk (referee) ; Vondráček, Petr (referee)
Hereditary peripheral neuropathy, known asCharcot Marie Tooth disease (CMT) and with an incidence of 1:2500 -1:10 000, is the most common hereditary neuromuscular disorder. Type CMT 1A is the most common form of CMT refering to the group of primary demyelinitateing motor and sensory peripheral neuropathies. CMT phenotype is clinically characterized by chronic slowly progressive distal muscle weakness and atrophy with hypo or areflexia and mild to moderate acral sensory loss. The lower limbs are predominantly affected. The aims of this study were to describe the first and most common signs of CMT1A during the first decade of life, to characterize their progression, and evaluate the sensitivity of CMTNS (Charcot-Marie- Tooth neuropath scale) for CMT1A young children. Sixteen children aged 3 to 10 years with genetically proven CMT 1A were examined. All patients were clinically examined, underwent electrophysiological examination, and were scored by CMTNS. Eight were followed for up to two years. Our data shows that CMT 1A in children under the age of 10 years causes only a mild disability. Initial signs of CMT 1A were difficulty in heel walking (15/16, 93%) and lower limb hypo or areflexia ( 13/16, 81%). The test of heel walking can be easily used as a screening test for hereditary neuropathies in pediatrics....
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Predictive markers for development of clinical status in multiple sclerosis patients.
Horáková, Dana ; Kubala Havrdová, Eva (advisor) ; Vymazal, Josef (referee) ; Ambler, Zdeněk (referee)
Multiple Sclerosis is a chronic neurological disease that, without therapy, causes a serious disability in a substantial number of patients. We are not able to cure the disease yet, but with current repertoire of drugs we are able to significantly influence the inflammatory part of the disease and if patients response to a therapy, we can fundamentally change their prognosis. The treatment must be started early, i. e. in a phase when axons are still preserved, optimally in a clinically isolated syndrome. A great issue at this stage is to properly estimate the prognosis of an individual patient and to choose the right treatment for the right patient. Moreover, after the start of the treatment, it is very important to carefully monitor the patient's treatment response. Among the surrogate markers that are available today, MRI is one of the most utilised in an everyday practice. Our work is trying to find the answer to the question what is the evolution of total and regional brain atrophy and which MRI parameters best reflect clinical status of an MS patient. We analysed 2- and 5-year clinical and MRI data of 181 patients from the original ASA (Avonex-Steroids-Azathioprine) study. In accordance with other papers we confirmed significant brain atrophy already in the early phase of the disease. This total...
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Clinical and elektrophysiology longitudinal study of children with hereditary neurophathy Charlot-Marie-Tooth type 1A
Haberlová, Jana ; Seeman, Pavel (advisor) ; Syka, Josef (referee) ; Ambler, Zdeněk (referee) ; Vondráček, Petr (referee)
Hereditary peripheral neuropathy, known asCharcot Marie Tooth disease (CMT) and with an incidence of 1:2500 -1:10 000, is the most common hereditary neuromuscular disorder. Type CMT 1A is the most common form of CMT refering to the group of primary demyelinitateing motor and sensory peripheral neuropathies. CMT phenotype is clinically characterized by chronic slowly progressive distal muscle weakness and atrophy with hypo or areflexia and mild to moderate acral sensory loss. The lower limbs are predominantly affected. The aims of this study were to describe the first and most common signs of CMT1A during the first decade of life, to characterize their progression, and evaluate the sensitivity of CMTNS (Charcot-Marie- Tooth neuropath scale) for CMT1A young children. Sixteen children aged 3 to 10 years with genetically proven CMT 1A were examined. All patients were clinically examined, underwent electrophysiological examination, and were scored by CMTNS. Eight were followed for up to two years. Our data shows that CMT 1A in children under the age of 10 years causes only a mild disability. Initial signs of CMT 1A were difficulty in heel walking (15/16, 93%) and lower limb hypo or areflexia ( 13/16, 81%). The test of heel walking can be easily used as a screening test for hereditary neuropathies in pediatrics....
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