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Scripta Scientifica Medica


L. Vasileva, D. Konstantinova, V. Yolova, L. Svrakova


Hereditary neurological diseases nowadays are the object of intensive clinicalgenetic and molecular-genetic research. In retrospective evaluation of500families we find out that 20 of them (4 %) are with genetically determined neuropathology. Spinal muscular atrophy and progressive muscular dystrophy (Duchenne and Becker) predominate hut there are families with neural muscular atrophy, Friedreich's ataxia, neurofibromatosis, Strumpel spastic paraparesis, myopaties (inborn and Tompson's) and Huntington's chorea. Mainly the neurological and the paediatric Clinics refer patients. Only one of the visits to the Counseling center is a result of the social contacts of the patients. Almost all autosomal dominant traits segregate in the corresponding pedigrees. Only in three families it is possible to result from a new mutation. The well-known diseases with autosomal recessive and Х-linked recessive inheritance are most often sporadic cases. In two pedigrees genetic counseling is a base for prenatal ultrasound diagnosis and in one -for DNA analysis. In the rest cases genetic prognosis is made for some family members. The concrete cases and the problems of the genetic counseling are discussed


Genetic counseling; neurological diseases; autosomal recessive inheritance; Х-linked recessive inheritance; diagnosis; prognosis

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About The Authors

L. Vasileva

D. Konstantinova

V. Yolova

L. Svrakova

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