ALS and other neuromuscular disorders

Introduction

Neuromuscular diseases (NMDs) form a heterogeneous group of pathologies affecting the spinal cord and its tracts, nerve roots as well as motor and sensory peripheral nerves and roots, the neuromuscular junction and muscles. Diagnosis involves the use of a series of sophisticated methods that include: neurophysiological studies, muscle or nerve biopsy with the use of immunohistochemical techniques and others, metabolic analysis and tests, MRI studies, quantification of muscle deficit and in many cases genetic studies.

From the few epidemiological studies that exist in our country, the prevalence of chronic neurodegenerative and/or hereditary pathology is estimated to be of around 60,000 patients throughout Spain.

Lines of Research

• Clinical characterization of neuromuscular pathologies and correlation between their clinical phenotype and genotype (or proteomic characterization).
• Development of animal models based on genotypically identified dystrophies.
• Study of the pathophysiology of neuromuscular diseases.
• Development of new therapeutic strategies.

Research Groups