Disclosed herein are methods for diagnosing, prognosing and treating muscular dystrophy. The disclosed methods can be used to diagnosis, prognosis or treat a subject with merosin-deficient congenital muscular dystrophy Type 1A (MDC1A), limb-girdle muscular dystrophy (LGMD), facioscapulohumeral (FHMD), Beckers muscular dystrophy (BMD) or Duchenne muscular dystrophy (DMD). Also disclosed are methods of determining the effectiveness of an agent for the treatment of muscular dystrophy. In an example, a method of diagnosing or prognosing a subject with muscular dystrophy includes detecting expression of Galectin-1 or Galectin-3 in a sample obtained from the subject at risk of having or having one or more signs or symptoms associated with muscular dystrophy, thereby diagnosing or prognosing the subject with muscular dystrophy. Also provided are methods of enhancing muscle regeneration, repair, or maintenance in a subject by administering galectin, such as Galectin-1 and/or Galectin-3 to a subject in need thereof.

Embodiments of this invention include synthetic compounds (NRP analogs) of peptides termed neural regeneration peptides (NRPs). NRP analogs are made by substituting amino acids in the native peptide sequence, modifying amino acids chemically, by replacing amino acids with synthetic moieties, by stabilizing -turns, acetylation of terminal glycine residues or by cyclization. NRP analogs can be used to treat a variety of conditions involving degeneration of neural cells, and includes treating disorders of the nervous system, including peripheral neuropathy, multiple sclerosis, diabetic peripheral neuropathy, neurotoxin-induced neurodegeneration, and amyotrophic lateral sclerosis.

Provided is a method for detecting the expression of SMN protein, said method comprises: a step for labeling SMN protein in a sample, said sample containing nucleated cells derived from blood; a step for labeling the nuclei of the nucleated cells in the sample; a step for selecting a cell population of the nucleated cells in which nuclei and SMN protein are labeled; and a step for detecting the expression of the SMN protein on the basis of the label for the SMN protein in the selected cell population.

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.

Four and a Half LIM domains protein 1 (FHL-1) mutations at positions 128 or 224 that are associated with X-linked muscular myopathy, methods of screening subjects to identify those susceptible to muscular myopathy including muscular dystrophy and cardiomyopathy and kits.

A method for treating muscular dystrophy is described, including extracorporeally treating a patient's bodily fluid. The bodily fluid is removed from a patient before treatment and returned to the patient after treatment. The treatment targets an antigen associated with muscular dystrophy, such as interleukin-17 (IL-17), TNF- (tumor necrosis factor-alpha), interleukin-6 (IL-6), CTGF- (transforming growth factor-beta), MCP-1 (monocyte chemotactic protein-1), and combinations thereof. The treatment removes the antigen from the bodily fluid. Preferably, the treatment is removed from the bodily fluid before returning to the patient.

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 (S) protein with a pre-incubation mixture comprising a monomeric S 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 S aggregates; (C) subjecting the incubation mixture to excitation and detecting via indicator fluorescence emission the misfolded S 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.

Administration of apitegromab leads to improvements in motor function and/or quality of life in subjects with spinal muscular atrophy.

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.

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 (S) protein with a pre-incubation mixture comprising a monomeric S 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 S aggregates; (C) subjecting the incubation mixture to excitation and detecting via indicator fluorescence emission the misfolded S 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.