Growth and Endocrinological Evaluation in Autosomal Recessive Proximal Spinal Muscular Atrophies Type I–III

Abstract

Aims: Autosomal recessive proximal spinal muscular atrophies (SMA) are hereditary monogenetic disorders characterized by a ubiquitous deficiency of the survival of motor neuron protein in every cell, leading to a multisystemic disorder which mostly affects α-motorneurons for unexplained reasons. Clinical evaluation often shows hirsutism and early occurrence of pubic hair which was not observed in other neuromuscular disorders so that it is unclear whether this belongs to the multisystemic origin of the SMA. Actually, there are no data available concerning growth and pubertal development in patients with SMA I–III.