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Neuromuscular and neurometabolic disorders

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Title Neuromuscular and neurometabolic disorders
Period 06 / 2002 - unknown
Status Current
Research number OND1243026
Data Supplier Website IFKB

Abstract

The central aim of the research line is the elucidation of the mechanisms responsible for the phenotype and the underlying causes of neuromuscular and neurometabolic diseases, with the ultimate goal of finding treatment approaches for these diseases. This main objective is primarily inspired by the clinical questions coming from this heterogeneous and large group of neuromuscular and neurometabolic patients. Within these disorders there is an integrated, interdisciplinary approach combining clinical, molecular and physiological aspects in the study of the most frequently occurring neuromuscular and neurometabolic disorders. Although in the majority of neuromuscular diseases, the primary cause is located in a peripheral subsystem, the questions concerning (mal) adaptations in the central nervous system, compensating or worsening the disease signs (e.g. aberrant nervous drive to muscles, fatigue) have become in relevant. The integrated study of myotonic dystrophy, facioscapulohumeral dystrophy, Duchenne muscular dystro¬phy, hereditary motor and sensory neuropathies, myositis, mitochondrial myopathies and motor neuron disease is important from a health care point of view, to provide expert clinical patient care. In addition, there are two overlapping aspects in the clinical and scientific questions at hand. The first is the study of a diversity of rare, so called orphan diseases, which as experiments of nature have the potential to elucidate, in various different cases, the broadness of the problem. This goes from a genetic disorder to a molecu¬lar defect, via biochemical and (electro) physiological deficiencies until movement deficiencies as part of the documented full clinical picture of the patient. The second aspect is the focus on fatigue, which can serve as a mediator between the various disease entities: it is a common symptom in neuromuscular disorders of all kinds, while specific aspects can be studied with various techniques, also specifically in the above mentioned orphan diseases. All this serves the improvement of diagnosis and patient care in this class of often highly disabling diseases. In addition, these studies enable to elucidate general biological mechanisms.

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Classification

A70000 Public health and health care
D21400 Genetics
D21500 Histology, cell biology
D21700 Physiology
D23210 Dermatology, venereology, rheumatology, orthopedics
D23230 Neurology, otorhinolaryngology, opthalmology

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