E-POSTERS – NEUROPATHIES / ALS – CASE REPORTS: EP.104Spinal muscular atrophy overlapping syndrome – "double trouble" or a chance for better outcome?

Abstract

Spinal muscular atrophy (SMA 5q) is one of the most frequent autosomal recessive disease in childhood and is caused by mutations of SMN1 gene. SMA patients present with progressive muscle weakness and atrophy. SMA coexisting with another genetic entity is extremely rare and remains a diagnostic challenge. So-called "double trouble" cases demand special approach and individual multidisciplinary management. Here, we present two new cases of SMA overlapping with hereditary spastic paraplegia or Noonan syndrome, and follow-up of our previously reported patient with SMA and Charcot-Marie-Tooth 1A. Recent new therapeutic options available for SMA patients call for high index of suspicion when anterior horn cell dysfunction accompanies another defined genetic disorder.