The present invention relates to a composition and a kit for diagnosis of muscle weakness-related disease, which comprises agents for measuring the expression levels of gelsolin and tetranectin, and to a method of diagnosing muscle weakness-related disease by using the same. The composition, kit and method for diagnosis of muscle weakness-related disease according to the present invention make it possible to diagnose muscle weakness-related disease in an easy and rapid manner by molecular diagnosis, thereby systemically managing the muscle weakness-related disease while increasing therapeutic efficacy against the muscle weakness-related disease.

The present invention relates to a amyotrophic lateral sclerosis (ALS) diagnostic composition using acid sphingomyelinase (ASM), and a method for detecting diagnostic markers and, more specifically, to a method and a composition for detecting markers for ALS, the method comprising the steps of: (a) providing a sample of a subject; (b) measuring the ASM expression level or the enzyme activation level in the sample; (c) determining that a subject, of which the ASM expression level or the enzyme activation level is increased compared to that of a normal person, has ALS. According to the investigation of the present inventors, the activity of ASM, among lipids and enzymes related to the sphingolipid metabolism, is specifically increased in a sample of an ALS patient compared to that of a normal person. ASM can be used as a marker for diagnosing ALS, thereby enabling the development of a novel and effective diagnostic reagent.

The present invention is directed to methods of detecting SLC34A2 expression in muscle tissue in a sample from a subject comprising providing the sample from the subject; and conducting an assay to detect an expression level of SLC34A2 in the sample.

Methods and materials are described for human genome prophylaxis and therapy of diseases using myoblast transfer. These methods result in gene transcript changes in multiple pathways. Linking the myoblast transfer technology development from DMD, cardiomyopathy, and Type-II diabetes, the myoblast transfer demonstrably mediates its effect through transfer of the normal myoblast nuclei that supply the complete human genome, in addition to just replenishing the missing gene(s) or the aberrant gene(s). The replacement genes then transcribe to produce the necessary proteins or factors for genetic repair. A variety of uses of this technology are described, including that for disease treatment, disease prevention, drug discovery, and selection of superior cells and clones for therapy.

Disclosed herein are compounds, compositions and methods for modulating splicing of SMN2 mRNA in a subject. Also provided are uses of disclosed compounds and compositions in the manufacture of a medicament for treatment of diseases and disorders, including spinal muscular atrophy. Also provided are kits for detecting the amount of SMN protein in a sample of cerebrospinal fluid.

Methods and compositions for increasing neurogenesis or muscle regeneration and for preventing or treating diseases, disorders or conditions associated with neurodegeneration or muscle regeneration, are provided herein.

The present disclosure relates generally to methods of preventing, reducing risk of developing, or treating spinal muscular atrophy, comprising administering to a subject an inhibitor of the complement pathway.

Disclosed herein are compounds, compositions and methods for modulating splicing of SMN2 mRNA in a subject. Also provided are uses of disclosed compounds and compositions in the manufacture of a medicament for treatment of diseases and disorders, including spinal muscular atrophy. Also provided are kits for detecting the amount of SMN protein in a sample of cerebrospinal fluid.

The present invention features recombinant adeno-associated vectors for delivery of genes to both skeletal and cardiac muscle and methods for treatment of muscle defects, including Duchenne's muscular dystrophy.

The present invention is directed to systems and methods for diagnosing amyotrophic lateral sclerosis (ALS) by assessing the expression level of a marker, FGGY. In other aspects, the present invention is also directed to systems and methods of establishing a prognosis of ALS disease severity by assessing the expression level of FGGY.