title: [Screening for hereditary neuromuscular disorders with molecular genetic methods in the Roma population of Hungary].
abstract: Recent medical genetic research has identified a number of novel, or previously known, but rare conditions, caused by private founder mutations. The Finnish and Ashkenazi Jew populations provide the best examples for identifying genes in unique genetic disorders. In these populations, research efforts and high-level medical services resulted in intense improvements of medical care and in organization of population-based screening programs. Hereditary disorders of the Roma populations are known for a long time. The genetic background of these diseases has been established by extensive molecular genetic studies. The Romas represent 6% of the Hungarian population and live under extremely bad health conditions. Therefore, our aim was to map the incidence of the hereditary neuromuscular disorders among the Hungarian Roma population. Moreover, we intended to provide proper information, genetic counseling and possible prevention strategies for the families at risk, which should represent a primer task in public health. Because of our experience in neuromuscular disorders, we choose six, frequent, autosomal recessive disorders for these clinical and genetic studies: hereditary motor and sensory neuropathy type Lom (HMSNL), hereditary motor and sensory neuropathy type Russe (HMSNR), congenital cataracts facial dysmorphism syndrome (CCFDN), limb-girdle muscular dystrophy 2C (LGMD2C), congenital myasthenic syndrome (CMS) and spinal muscular atrophy (SMA). Following identification of the founder mutations, the possibility of prenatal diagnosis and carrier screening for family members will contribute to the decrease of the recurrence risk for these severe, mostly untreatable disorders.
authors.affiliation: Magyarországi Református Egyház Bethesda Gyermekkórháza, Neurológia Osztály, Budapest. herczegfalvi@bethesda.hu
authors.forename: Agnes
authors.initials: A
authors.lastname: Herczegfalvi
authors.forename: Henriett
authors.initials: H
authors.lastname: Pikó
authors.forename: Veronika
authors.initials: V
authors.lastname: Karcagi
mesh_terms: D002386:Cataract / Q000151:congenital / Q000235:genetics; D005145:Face / Q000002:abnormalities; D018703:Founder Effect; D016368:Frameshift Mutation; D017353:Gene Deletion; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D006814:Hungary; D008403:Mass Screening / Q000379:methods*; D008967:Molecular Biology; D009134:Muscular Atrophy, Spinal / Q000235:genetics; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics; D009154:Mutation; D009157:Myasthenia Gravis / Q000235:genetics; D006178:Romani People / Q000235:genetics*