Recent studies indicate that the protein affected in spinal muscular atrophy, SMN, plays a role in the assembly of a number of macromolecular complexes that function in the nucleus, interacting with its partner proteins via their arginine- and glycine-rich domains.

BACKGROUND Molecular diagnosis of the distal spinal muscular atrophies or distal hereditary motor neuropathies remains challenging because of clinical and genetic heterogeneity. Next generation sequencing offers potential for identifying de novo mutations of causative genes in isolated cases. PATIENT DESCRIPTION We present a 3.6-year-old girl with congenital scoliosis, equinovarus, and L5/S1 ...

Amyotrophic lateral sclerosis (ALS), spinal bulbar muscular atrophy (or Kennedy's disease), spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 are neurodegenerative disorders mainly affecting motor neurons and which currently lack effective therapies. Recent studies in animal models as well as primary and embryonic stem cell models of ALS, utilizing over-expression ...

spinal muscular atrophy (sma) is an autosomal recessive neuromuscular disorder characterized by degeneration of spinal cord anterior horn cells, leading to muscular atrophy. sma is clinically classified into three sub-groups based on the age of onset and severity. the majority of patients with sma have homozygous deletions of exons 7 and 8 of the survival motor neuron (smn) gene. the purpose of ...

Less than a decade ago, patients diagnosed with Spinal Muscular Atrophy (SMA) had no treatments other pulmonary, gastrointestinal, and orthopedic care. These palliative were focused on managing symptoms did not address the cause of disease itself. Now, there are several FDA (U.S. Food Drug Administration) approved drugs to treat SMA, which can stop or slow progression. In order discuss developm...

Spinal muscular atrophy is an inherited neurodegenerative illness characterized by muscle wasting and loss of spinal cord motor neurons. It results from homozygous loss, translation, or mutation the survival neuron 1 (SMN1) gene. Despite lack a cure, research has revealed potential processes explaining disease’s molecular etiology. The SMN1 gene region’s distinctive genomic structure been used ...

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that predominantly affects motor neurons, resulting in progressive muscular atrophy and weakness. SMA arises due to insufficient survival motor neuron (SMN) protein levels as a result of homozygous disruption of the SMN1 gene. SMN upregulation is a promising and potent treatment strategy for this currently incurab...