Presse Med
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Lipodystrophic syndromes (LS) constitute a clinically and genetically heterogeneous group of diseases characterized by a loss of adipose tissue. These syndromes are usually associated with metabolic complications, which are determinant for morbidity and mortality. The classical forms of LS include partial, generalized, and progeroid lipodystrophies. ⋯ The challenge for geneticists is now the interpretation of the amount of available genetic data, generated especially by exome and whole-genome sequencing. International recommendations on the interpretation and classification of variants have been set up and are regularly reassessed. Very close collaboration between geneticists, clinicians, and researchers will be necessary to make rapid progress in understanding the molecular and cellular basis of these diseases, and to promote personalized medicine.
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Lipodystrophy syndromes are rare, heterogeneous disorders characterized by the complete or partial deficiency of adipose tissue and are classified according to the extent of fat loss in generalized or partial subtypes, or based on the pathogenic mechanisms in genetic or acquired. While in most cases of congenital forms of lipodystrophy a genetic alteration can be identified, the pathogenic mechanisms responsible for the acquired diseases are not fully clarified. ⋯ The aim of this review is to give an update on acquired lipodystrophies describing pathogenic mechanisms involved and the relationships between acquired lipodystrophies and other autoimmune disorders. Larger studies based on international disease registries are needed to collect accurate information on the prevalence, risk factors, genetic predisposition, natural history, disease markers and treatment efficacy of these ultrarare disorders.
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Patients with multiple sclerosis, despite advances in therapy, often suffer from locomotor impairment that limits their mobility and affect quality of life. Rehabilitation is part of the treatment of MS and has shown its beneficial effects in numerous studies. While traditional rehabilitation techniques remain in the limelight, new technologies are emerging and make it possible to improve the management of disabling symptoms. ⋯ Action observation training in real or virtual situations is also effective. Finally, under certain conditions the constraint induced movement therapy is proposed. The effects of rehabilitation are not only positive on the pyramidal symptoms and fatigue but also increase neuroplasticity and perhaps a neuroprotective effect as shown in some studies.
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Multiple sclerosis is a major socio-economical burden as it represents the most common cause of non-traumatic neurological disability in young adults [1]. It affects also children with a lower prevalence and incidence but remains a major concern as disability may occur later during their adulthood. Therefore, there is an absolute need for earlier diagnosis and treatment. In this review, we would focus on how these objectives can be achieved.
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Despite immense progress of imaging and updates in the MacDonald criteria, the diagnosis of multiple sclerosis remains difficult as it must integrate history, clinical presentation, biological markers, and imaging. There is a multitude of syndromes resembling multiple sclerosis both clinically or on imaging. The goal of this review is to help clinicians orient themselves in these various diagnoses. We organized our review in two categories: inflammatory and autoimmune diseases that are close or can be confused with multiple sclerosis, and non-inflammatory syndromes that can present with symptoms or imaging mimicking those of multiple sclerosis. ⋯ Review of literature CONCLUSION: Progress of imaging and biological sciences have drastically changed the approach and management of multiple sclerosis. But these developments have also shined a light on a variety of diseases previously unknown or poorly known, therefore greatly expanding the differential diagnosis of multiple sclerosis. While autoimmune, many of these diseases have underlying biological mechanisms that are very different from those of multiple sclerosis, rendering MS therapies usually inefficient. It is crucial to approach these diseases with utmost thoroughness, integrating history, clinical exam, and evolving ancillary tests.