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.