E-posters – neuropathies / als – case reports

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.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: A. Fraczek, A. Potulska-Chromik, M. Bednarska-Makaruk, A. Sulek, E. Obersztyn, N. Braun-Walicka, B. Ryniewicz, A. Kostera-Pruszczyk Source Type: research