Despite the low prevalence of each individual pathology, the total number of patients with rare diseases in the world is millions<\/strong>. In more than 80% such cases, the cause is genetic mutations<\/strong><\/a>.<\/p>\n Genetic changes can be:<\/p>\n inherited from parents<\/strong> \u2014 when both carry the mutant gene (for example, in autosomal recessive inheritance)<\/p>\n<\/li>\n de novo mutations<\/strong> \u2014 that arise spontaneously in the embryo<\/p>\n<\/li>\n as a result of chromosomal rearrangements<\/strong> or point mutations<\/p>\n<\/li>\n<\/ul>\n Even a single mutation can alter protein synthesis, leading to dysfunction of cells, tissues, and entire systems.<\/p>\n Diagnosis is usually complex and takes months or even years. The main stages are:<\/p>\n clinical suspicion<\/strong> based on symptoms, family history, physical examination<\/p>\n<\/li>\n molecular genetic tests<\/strong> (sequencing, gene panels, exome or whole genome sequencing)<\/p>\n<\/li>\n biochemical markers<\/strong> \u2014 in cases of metabolic disorders<\/p>\n<\/li>\n neonatal screening<\/strong> \u2014 allows you to detect some conditions even in the maternity hospital<\/p>\n<\/li>\n<\/ul>\n Prevents irreversible complication<\/strong><\/p>\n<\/li>\n Gives the opportunity start treatment or supportive therapy<\/strong><\/p>\n<\/li>\n Allows genetic counseling<\/strong> for the family<\/p>\n<\/li>\n Gives time for adaptation and psychological support<\/strong><\/p>\n<\/li>\n<\/ul>\n Treatment depends on the specific pathology. In some cases, the following is used:<\/p>\n Replacement therapy<\/strong> (e.g. enzymes for mucopolysaccharidosis)<\/p>\n<\/li>\n Dietary therapy<\/strong> (for phenylketonuria)<\/p>\n<\/li>\n Gene therapy and RNA drugs<\/strong> \u2014 for a number of orphan diseases (e.g. Zolgensma for SMA)<\/p>\n<\/li>\n Physical and rehabilitation assistance<\/strong> \u2014 to maintain quality of life<\/p>\n<\/li>\n Symptomatic treatment<\/strong> \u2014 reduction of pain, cramps, breathing problems<\/p>\n<\/li>\n<\/ul>\n Patients with rare genetic diseases often need:<\/p>\n constant medical support<\/strong><\/p>\n<\/li>\n multidisciplinary approach<\/strong> (neurologist, geneticist, pediatrician, psychologist, speech therapist)<\/p>\n<\/li>\n social and educational support<\/strong><\/p>\n<\/li>\n<\/ul>\n An important role is played by patient organizations<\/strong>, which help families find resources, information, specialized centers, and communication.<\/p>\n Yes. Genetic counseling<\/strong> and prenatal diagnosis<\/strong> allow:<\/p>\n assess the risks for future children<\/p>\n<\/li>\n to perform screening when planning pregnancy<\/p>\n<\/li>\n determine the carrier status of certain pathologies in a couple<\/p>\n<\/li>\n<\/ul>","protected":false},"excerpt":{"rendered":" What are rare genetic diseases? Rare (orphan) genetic diseases are diseases that occur in less than 1 in 2<\/p>","protected":false},"author":627,"featured_media":9689,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-9688","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-blog"],"_links":{"self":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/posts\/9688","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/users\/627"}],"replies":[{"embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/comments?post=9688"}],"version-history":[{"count":0,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/posts\/9688\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/media\/9689"}],"wp:attachment":[{"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/media?parent=9688"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/categories?post=9688"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medilab.km.ua\/en\/wp-json\/wp\/v2\/tags?post=9688"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}How do these diseases occur?<\/h2>\n
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Examples of rare genetic diseases<\/h2>\n
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\n \nDisease name<\/th>\n Main manifestations<\/th>\n<\/tr>\n<\/thead>\n \n Cystic fibrosis<\/a><\/td>\n Respiratory problems, frequent infections, digestive problems<\/td>\n<\/tr>\n \n Rett syndrome<\/td>\n Loss of language and motor skills in girls after 6 months of age<\/td>\n<\/tr>\n \n Phenylketonuria<\/td>\n Amino acid metabolism disorders, mental retardation without treatment<\/td>\n<\/tr>\n \n Duchenne muscular dystrophy<\/td>\n Progressive muscle weakness in boys<\/td>\n<\/tr>\n \n Gaucher disease<\/td>\n Enlarged liver and spleen, bone disorders<\/td>\n<\/tr>\n \n Prader-Willi syndrome<\/td>\n Excessive appetite, developmental delay, decreased muscle tone<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n How to detect a rare disease?<\/h2>\n
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![\"Doctor](\"https:\/\/medilab.km.ua\/wp-content\/uploads\/2025\/05\/99.jpg\")
<\/p>\nWhy is early diagnosis critical?<\/h2>\n
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Modern treatment: what is real?<\/h2>\n
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How do patients live?<\/h2>\n
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Can I warn you?<\/h2>\n
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