Alterations in insulin-like growth factor system in spinal muscular atrophy.

Introduction/aims: Spinal muscular atrophy (SMA) is an inherited neuromuscular disease caused by survival motor neuron (SMN) protein deficiency. Insulin-like growth factor-I (IGF-I) is a myotrophic and neurotrophic factor that has been reported to be dysregulated in in vivo SMA model systems. However, detailed analyses of the IGF-I system in SMA patients are missing.

Recent therapeutic developments in spinal muscular atrophy.

Proximal spinal muscular atrophy (SMA) is an inherited neurodegenerative disease with a heterogeneous clinical phenotype. Although there is no cure for SMA, several strategies are currently being developed. In this review, we summarize the ongoing clinical trials and molecular mechanisms of successful approaches to SMA treatment.

Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study.

Exercise studies in neuromuscular diseases like spinal muscular atrophy (SMA), a devastating disease caused by survival of motor neuron 1 ( SMN1) gene mutations, are drawing attention due to its beneficial effects. In this study, we presented a constructed arm cycling exercise protocol and evaluated the benefits on SMA patients. Five SMA type II patients performed 12 weeks of supervised arm cycling exercise.

Spinal muscular atrophy type III: Molecular genetic characterization of Turkish patients.

Spinal Muscular Atrophy (SMA) is a neurodegenerative disease with autosomal recessive inheritance. Homozygous loss of exon 7 of the Survival of motor neuron 1 (SMN1) gene is the main cause of SMA. Although progressive muscle weakness and atrophy are common symptoms, disease severity varies from severe to mild.