The present invention relates to a substance that activates the GDF5 pathway, for use in a method for the treatment of age-related sarcopenia or disuse atrophy.

The invention relates to a method for prognosing, diagnosing, determining the risk, and monitoring the evolution of a muscular dystrophy. It also relates to a method for evaluating the efficacy of a treatment of a muscular dystrophy in a subject in need thereof.

In one aspect, the invention provides a method of screening a human subject to determine if said subject has a genetic predisposition to develop, or is suffering from Facioscapulohumeral Dystrophy (FSHD), said method comprising: (a) providing a biological sample comprising genomic DNA from the subject; and (b) analyzing the portion of the genomic DNA in the sample corresponding to the distal D4Z4-pLAM region on chromosome 4 and determining the presence or absence of a polymorphism resulting in a functional polyadenylation sequence operationally linked to exon 3 of the DUX4 gene.

Provided is a therapeutic agent that effectively acts on a disease associated with abnormal glycosylation of dystroglycan. Also provided is a testing method for diseases associated with abnormal glycosylation of dystroglycan. Specifically, provided is a therapeutic agent for diseases associated with abnormal glycosylation of dystroglycan, containing CDP-ribitol as an active ingredient. Ribitol-phosphate is important in the glycan structure of dystroglycan. In order for ribitol-phosphate to be incorporated into a dystroglycan glycan, a material therefor (sugar donor) is required. In the present invention, it has been found for the first time that CDP-ribitol serves as the sugar donor. It has been confirmed that the glycan of ISPD-deficient cells can be restored by administering CDP-ribitol. Thus, the present invention, which allows CDP-ribitol to be utilized for supplementation therapy, has been completed.

A method is provided for distinguishing between and/or diagnosing Parkinson's disease (PD) or multiple system atrophy (MSA) in a subject who is exhibiting symptoms associated with both PD and MSA. The method comprises: (A) contacting a biological sample obtained from the subject and comprising soluble, misfolded alpha-synuclein (αS) protein with a pre-incubation mixture comprising a monomeric αS substrate and an indicator to form an incubation mixture; (B) conducting an incubation cycle two or more times on the incubation mixture to form misfolded αS aggregates; (C) subjecting the incubation mixture to excitation and detecting via indicator fluorescence emission the misfolded αS aggregates; and (D) diagnosing the subject has having PD or MSA depending on the fluorescence emission intensity. In some aspects, the incubation cycles are conducted in the presence of a bead.

The present invention provides a prophylactic and/or therapeutic agent for ALS containing a Src/c-Abl pathway inhibitor.

Methods for identifying compounds in the treatment of muscular dystrophies, include the use of disease relevant cells derived from a patient. Compounds identified by these methods are useful in the treatment of muscular dystrophy.

Aspects of the disclosure relate to methods of altering RNA splicing in a subject. In some embodiments, methods are provided for correcting splicing in a cell that contains a DYSF gene having a mutation that results in defective splicing.

Provided is a therapeutic agent that effectively acts on a disease associated with abnormal glycosylation of dystroglycan. Also provided is a testing method for diseases associated with abnormal glycosylation of dystroglycan. Specifically, provided is a therapeutic agent for diseases associated with abnormal glycosylation of dystroglycan, containing CDP-ribitol as an active ingredient. Ribitol-phosphate is important in the glycan structure of dystroglycan. In order for ribitol-phosphate to be incorporated into a dystroglycan glycan, a material therefor (sugar donor) is required. In the present invention, it has been found for the first time that CDP-ribitol serves as the sugar donor. It has been confirmed that the glycan of ISPD-deficient cells can be restored by administering CDP-ribitol. Thus, the present invention, which allows CDP-ribitol to be utilized for supplementation therapy, has been completed.

A method for detecting or monitoring FSHD comprising detecting one or more biomarkers, such as miRNA biomarkers or protein biomarkers that are significantly decreased or increased in subjects having FSHD compared to normal control subjects. Methods for treatment of subjects at risk of having, or having FSHD.