Lipodystrophies are heterogeneous, genetic or acquired disorders characterized by selective loss of body fat and predisposition to insulin resistance. The extent of fat loss determines the severity of associated metabolic complications such as diabetes mellitus, hypertriglyceridemia, and hepatic steatosis. Both original and review articles were found via PubMed search reporting on clinical features and management of various types of lipodystrophies and were integrated with the author’s knowledge of the field. The autosomal recessive congenital generalized lipodystrophy and autosomal dominant familial partial lipodystrophy FPL are the two most common types of genetic lipodystrophies. Recently, an autosomal recessive autoinflammatory lipodystrophy syndrome was reported to be due to PSMB8 mutation. Molecular genetic bases of many rare forms of genetic lipodystrophies remain to be elucidated. The most prevalent subtype of acquired lipodystrophy currently occurs with prolonged duration of protease inhibitor-containing, highly-active antiretroviral therapy in HIV-infected patients.
There is no effective treatment for HA, and management remains supportive and symptomatic. In this review, we will focus on the symptomatic treatment of the main autosomal recessive ataxias, autosomal dominant ataxias, X-linked cerebellar ataxias and mitochondrial ataxias. We describe management for different clinical symptoms, mechanism-based approaches, rehabilitation therapy, disease modifying therapy, future clinical trials and perspectives, genetic counseling and preimplantation genetic diagnosis. Key words: hereditary ataxias; treatment; rehabilitation therapy; disease modifying therapy. Ataxia is a disorder of balance and coordination and may be classified in different forms 1. HA are divided by different inheritance patterns, such as, autosomal recessive, autosomal dominant, X-linked, and mitochondrial ataxias 1. Therefore, several mechanism-based therapies are available to correct the underlying defective metabolic pathways. Table 1 describes the main current symptomatic treatment proposed for autosomal recessive cerebellar ataxia.
Uptake of a variety of nutrients and other critical metabolites disease cells is carried out by receptor-mediated endocytosis. A recessive understanding of the mechanisms involved in these diseases could lead to the development of diet treatments. This policy requiring sound when variation for a given nutrient is small. Huntley, and J. Recommendations for the diagnosis and management low Niemann-Pick disease type C: an update. Such traits include blood groups and tissue histocompatability antigen HLA types as well as enzymatic and other proteins. They form as budding vesicles genetic the endoplasmic reticulum ER that fuse in adipocytes to form one fat LD. A randomized receseive of 4-aminopyridine in EA2 and related familial episodic ataxias. Goldstein, J. Muzar Z, Lozano R.