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Bibliografia
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Keywords
MUSCLE, DYSTROPHY, MYOPATHIES, MRI, HEREDITARY

Clinical-radiological correlation in patients with inherited miopathies.

Università Cattolica del Sacro Cuore
Abstract
The recent advances achieved in the knowledge of muscle inherited disorders highlighted the clinical, histopathological and genetical eterogeneity in the various forms. It is therefore important to identify other markers that can help in the diagnostic workup. Recently several studies suggested that muscle imaging techniques may help to identify specific patterns of involvement in patients with genetically defined forms of muscle inherited disorders. The technique mainly used is the muscle MRI, but studies on muscle ultrasound and CT are available. Muscle ultrasound has the advantage of being less expensive and easily available, but the disadvantage of being operator-dependent but has not been sistematicallyused to evaluate possible patterns of muscle involvement in neuromuscular diseases. Muscle CT , that has proved to be able to detect patterns of muscle involvement, has the disadvantage of using ionising radiations.
Magnetic Resonance Imaging (MRI) is much more expensive than ultrasound and CT but has the advantage of not using ionising radiations. MRI provides excellent information on normal and abnormal signal in individual muscles and has been used to recognise specific patterns of muscle involvement in various forms of hereditary neuromuscular disorders. The aim of our study is to evaluate if and how the use of multiple sequences such as T1, T2 e STIRS may help not only to identify abnormal signal but also to differenziate between various components such as fat >>>

Principal Investigator
Eugenio Maria Mercuri Università Cattolica del Sacro Cuore
Research Objectives
The aim of the study is to develop an integrated approach, including clinical, hystopathological, genetic and imaging techniques, to be used in the diagnosis of inherited neuromuscular disorders.
The research will try to establish not only the value of each technique, but also if and how the combination of the information achieved using the individual techniques may help to identify and classify specific phenotypes.

More specifically, the aims of the research will be:

- to recognise specific patterns of muscle involvement using a simple protocol (transverse T1 weighted sequences of lower limbs), easily applicable to children or non collaborant patients, to be used in patients with various forms of inherited neuromuscular disorders. These will include both genetically distinct forms of ineherited disorders (i.e. Emery-Dreifuss muscular dystrophy, congenital muscular dystrophies, distrophinopathies etc) and forms for which the genetic defect is not yet known.

- to use, in collaborative patients, a more detailed protocol, including other sequences such as T2 and STIRS, in an attempt to gain more information on the areas of abnormal signal observed on T1 sequences and more generally, on the mechanisms underlying different forms of neuromuscular disorders.

- to compare muscle MRI findings with standardised measures of muscle function and strength in order to establish the relationship between the severity of >>>

Timescale
24 months
National and international background
The field of inherited muscle disorders is becoming increasingly complex: the level of genetic heterogeneity is far greater than initially appreciated. If we consider, for example, congenital muscular dystrophies (CMD) that has been considered as a single entity for many years, is now recognised as an heterogeneous group of conditions. There are already 9 genetically distinct forms of CMDs and an at least equal number of distinct phenotypes for which the genetic defect has not yet been established. Similar heterogeneity has also been found in other groups of disorders such as limb girdle muscular dystrophies or in congenital myopathies.
The possibility to reach a precise diagnosis in these patients is not always easy as genetically different conditions often share similar clinical and histopathological phenotypes and not all the forms have a specific hystopathological marker on muscle biopsy. As the numbers of proteins and genes that can be potentially screened in these forms are numerous and expanding, additional useful markers for selecting the appropriate genetic and biochemical investigations are required by the clinician. Several studies have reported the diagnostic value of muscle imaging in identifying specific patterns of muscle involvement in patients with distinct forms of muscle disorders, including various forms of muscular dystrophies or of congenital myopathies. The patterns observed appear to be consistent among patients affected by the same form and >>>