Neuromuscular diseases

Neuromuscular diseases conditions that impair the functioning of the muscles, either directly or indirectly via the neuromuscular junctions.

Spasticity

Spasticity is associated with increased muscle contraction, causing impaired movement and gait. The spasticity mouse used at Sylics presents symptoms of spasticity at 2 weeks of age and can reach adult age. This makes the spastic mouse model suitable for investigation novel interventions to improve physical performance.
Sylics has recently performed a detailed quantitative behavioral analysis of the spastic mouse model (Rivares et al, 2020). Spastic mice display a series of abnormalities, such, including abnormal gait, impaired hind limb motor function, reduced physical activity, and alterations in the morphology of relevant muscles.

Spasticity mice have pronounced deficits in the Catwalk Gait Analysis test

Duchenne's muscular dystrophy

Duchenne muscular dystrophy (DMD) is a neuromuscular disorder characterized by progressive muscle weakening and wasting. The disease is caused by nonsense or frame-shift mutations in the DMD gene, which encodes the muscle-related dystrophin protein. The most commonly used DMD mouse model is the mdx mouse, which lack dystrophin due to a point mutation. Sylics and collaborators have shown that these mice show robust muscle function impairments at young age and display cognitive impairments under specific conditions (Remmelink et al 2016; Engelbeen et al 2021)

 

Engelbeen et al. (2021) Front Behav Neurosci

Assessment of Behavioral Characteristics With Procedures of Minimal Human Interference in the mdx Mouse Model for Duchenne Muscular Dystrophy. Engelbeen S, Aartsma-Rus A, Koopmans B, Loos M, van Putten M. Front Behav Neurosci. 2021 Jan 20;14:629043. doi: 10.3389/fnbeh.2020.629043. PMID: 33551769; PMCID: PMC7855581. https://pubmed.ncbi.nlm.nih.gov/33551769/

Keywords: Duchenne, neuromuscular disorder, muscle disease

Remmelink et al. (2016) Genes Brain Behav

Cognitive flexibility deficits in a mouse model for the absence of full-length dystrophin. Remmelink E, Aartsma-Rus A, Smit AB, Verhage M, Loos M, van Putten M. Genes Brain Behav. 2016 Jul;15(6):558-67. doi: 10.1111/gbb.12301. PMID: 27220066. https://pubmed.ncbi.nlm.nih.gov/27220066/

Keywords: Dystrophin, Duchenne, neuromuscular disorder, muscle disease

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