Thoracic circumference: a new outcome measure in spinal muscular atrophy Type 1?

Proximal Spinal Muscular Atrophy (SMA) is one of the most common neuromuscular diseases, with an incidence of about one in 10,000 live births [1]. It is a progressive motor neuron disorder caused by deletion of exon 7 or other mutations in the survival motor neuron (SMN) 1 gene, resulting in SMN protein deficiency [2]. The almost identical SMN2 gene produces a small amount of functional SMN protein, and SMN2 copy number is recognized as a major modulator of the SMA phenotype. Although the role of SMN protein in motor neurons is incompletely understood, the phenotype of spinal muscular atrophy is largely related to the number of SMN2 gene copies present [3].

Source: Neuromuscular Disorders - March 13, 2019 Category: Neurology Authors: Juliette Ropars, Christine Barnerias, Marie Hully, Delphine Chabalier, Sylviane Peudenier, Audrey Barzic, Pierrick Cros, Isabelle Desguerre Source Type: research