Presymptomatic diagnosis of SMA III by genotype analysis

C. Brahe, S. Zappata, I. Velona, E. Bertini, S. Servidei, P. Tonali, G. Neri

Research output: Contribution to journalArticlepeer-review


Linkage analysis and prenatal prediction in families segregating autosomal recessive spinal muscular atrophy (SMA) has become feasible since the assignment of the locus responsible for type I-III SMA to region 5q12-q13.3. We have performed a segregation study of SMA in Italian families using molecular probes and highly informative PCR-based polymorphic markers. In one family, a 7-year-old boy affected with type III SMA and an 8-year-old apparently healthy brother had identical haplotypes. These findings prompted us to reexamine the apparently unaffected child. His neurological exam was normal. However, the electromyography (EMG) showed a pattern consistent with chronic SMA. To our knowledge this is the first example of presymptomatic diagnosis of SMA based on genotype analysis.

Original languageEnglish
Pages (from-to)408-411
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number3
Publication statusPublished - 1993


  • genotype analysis
  • presymptomatic diagnosis
  • spinal muscular atrophy

ASJC Scopus subject areas

  • Genetics(clinical)

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