Mitochondrial disease clinical manifestations: An overview
نویسنده
چکیده
183 ABSTRACT: Mitochondrial diseases are a heterogeneous group of disorders that can affect multiple organs with varying severity. Symptoms may be acute or chronic with intermittent decompensation. In childhood-onset disease, there is often a history of global developmental delay, while in adulthood the past history may be unremarkable prior to initial presentation. The unique character of mitochondrial genetics means family history patterns of inheritance may be both maternal and autosomal, making genetic counseling challenging. Tissue specificity and mitochondrial heteroplasmy may result in a spectrum of phenotypes even within a single family with the same molecular defect. Mitochondrial disease clinical manifestations: An overview
منابع مشابه
The “Rare” or “Non-LCH” Histiocytic Disorders in Childhood: A Brief Overview
Diseases of the monocyte, macrophage and dendritic cell system are referred to as histiocytoses. Based on improved understanding of their pathobiology and molecular background histiocytoses have been recently re-classified into five groups. Nevertheless, for practical reasons the histiocytoses are grouped into: Langerhans cell histiocytosis (the most common entity), hemophagocytic lymphohistioc...
متن کاملپسوریازیس در کودکان: مقالهای مروری
Psoriasis is a chronic inflammatory disease which may occur in childhood. In many psoriasis cases, the disease develops in individuals younger than 18 years old. Psoriasis in children presents with a variety of clinical manifestations. Becouse of its atypical presentations, early diagnosis of psoriasis is difficult in children. The plaque type psoriasis is the most common form of the disease in...
متن کاملEndocrine disorders in mitochondrial disease☆
Endocrine dysfunction in mitochondrial disease is commonplace, but predominantly restricted to disease of the endocrine pancreas resulting in diabetes mellitus. Other endocrine manifestations occur, but are relatively rare by comparison. In mitochondrial disease, neuromuscular symptoms often dominate the clinical phenotype, but it is of paramount importance to appreciate the multi-system nature...
متن کاملAn Overview of the Effects of Melatonin on Nervous System Diseases
Introduction: Melatonin is a hormone secreted from the pineal gland and plays an important role in regulating the brain functions. This hormone with antioxidant activity supports the body against internal and external damaging factors. Melatonin reduces the production of free radicals by preserving mitochondrial homeostasis, and contributes to ATP synthesis in mitochondria. Reduction of melaton...
متن کاملThe in-depth evaluation of suspected mitochondrial disease.
Mitochondrial disease confirmation and establishment of a specific molecular diagnosis requires extensive clinical and laboratory evaluation. Dual genome origins of mitochondrial disease, multi-organ system manifestations, and an ever increasing spectrum of recognized phenotypes represent the main diagnostic challenges. To overcome these obstacles, compiling information from a variety of diagno...
متن کامل