RESUMO
Bulbospinal muscular atrophy--a rare disease with X-linked recessive type of inheritance. It is caused by expansion of trinucleotide repetitions in the gene of androgenic receptor (AR). We elaborated a method of DNA-testing with usage of nonradioactive registration of mutant alleles of AR gene. DNA-diagnosis was performed in 16 patients with clinical pattern of bulbospinal muscular atrophy and diagnosis was confirmed in 11 patients. Carriage of mutant alleles was found in 7 women--relatives of the patients. Presymptomatic diagnosis revealed the presence of mutant alleles in 2 boys. Unstability of alleles of mutant AR gene was observed in one family: in sons there was more (upon 5) of CAG-triplets.
Assuntos
DNA/análise , Ligação Genética/genética , Atrofia Muscular Espinal/diagnóstico , Receptores Androgênicos/genética , Adolescente , Adulto , Idoso , Alelos , Creatina Quinase/metabolismo , Eletroforese em Gel de Poliacrilamida , Feminino , Expressão Gênica , Marcadores Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Atrofia Muscular Espinal/genética , Atrofia Muscular Espinal/metabolismo , Mutação , Linhagem , Reação em Cadeia da Polimerase , Receptores Androgênicos/biossínteseRESUMO
The authors describe a rare and little studied form (distal) of spinal amyotrophy. 12 patients were placed under observation. A group of patients with symmetric distal pareses of the hands and legs has been distinguished. Patients with long existent distal monoparesis of the hand or leg are described. The role of EMG in the differential diagnosis is emphasized.
