The endocrine manifestations of Spinal Muscular Atrophy, a real-life observational study

Spinal muscular atrophy (SMA) is a rare, autosomal recessive inherited disease caused by a homozygote deletion of exon 7 in the SMN1 (survival motor neuron) gene. SMA is characterized by degeneration of anterior horn cells of the spinal cord and brainstem resulting in muscular atrophy and proximal muscle weakness [1, 2]. The disease is classified into five subtypes according to age of presentation and severity of symptoms. There is no clear delineation between subtypes in many cases, and SMA is regarded as a spectrum [3].

Source: Neuromuscular Disorders - February 23, 2020 Category: Neurology Authors: Avivit Brener, Yael Lebenthal, Anna Shtamler, Sigal Levy, Ronnie Stein, Aviva Fattal-Valevski, Liora Sagi Source Type: research