Modern approaches to diagnostics of hereditary motor-sensory neuropathy
DOI:
https://doi.org/10.15587/2313-8416.2015.39134Keywords:
hereditary motor-sensory neuropathy, diagnostic criteria, clinical features, electromyography, molecular genetic researchAbstract
Aim. HMSN are the heterogeneous group of hereditary diseases characterized by the injury of peripheral nerves; HMSN manifest a marked significant clinical polymorphism with a broad distinction of phenotype, different type of inheritance, features of the clinical course, electroneuromyographic and morfohistochemical changes, chronic slowly progressive course.
Methods. Modern methods of diagnostics of hereditary motor-sensory neuropathy (HMSN): clinical-genealogical, neurological, neurophysiological, molecular genetic have been considered in the article.
Result. The diagnosis of HMSN is based on the data of anamnesis, neurological examination, electromyography, conduction velocity (СV) in motor fibers of the median nerve, DNA research. Identification of hereditary type of neuropathy is carried out using clinical-genealogical and twin methods. Confirm the hereditary type of the disease, you can use surveys relatives; typical symptoms of the disease (hollow foot, kyphoscoliosis) are frequently found in relatives. Neurologic examination should include examination of the musculoskeletal system (bone deformities, scoliosis, hollow foot), muscular strength in the limbs and torso, tendon reflexes, sensitivity. When the axonal neuropathy type data electromyography have been detect signs of denervation of nerves; when demyelinating type of neuropathy electromyography data have been characterized by signs of reduction of the interference curve. In most cases the differential diagnosis of HMSN should be performed with diseases of muscles and central nervous system, neuromuscular transmission disorders. Different genetic types of HMSN do not differ clinically; the diagnosis can be established only when the DNA study. At the present time the DNA diagnosis of HMSN is possible only for limited loci of several genes in everyday practice (duplication and deletion of the locus of chromosome 17 of PMP 22 gene in the main). Clinical diagnosis of HMSN may not always be confirmed by molecular genetic research.
Conclusions. The abnormality clinical manifestations NMSN and imperfect methods of DNA diagnostics are the most common causes of erroneous diagnosis. Early diagnosis of HMSN will allow carrying out therapeutic and rehabilitation activities; it will contribute to slowing the progression of the disease and prevention HMSN in subsequent generations
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