نتایج جستجو برای: optic ataxia
تعداد نتایج: 62591 فیلتر نتایج به سال:
Marquardt and Loriaux (I974) describe a kinship of two siblings with the combination of diabetes mellitus, diabetes insipidus, and optic atrophy in which there was additional evidence of renal tract dilatation, amino-aciduria, and neurosensory hearing deficit. These authors cite 41 cases of optic atrophy and diabetes mellitus reported since an association of these conditions was first described...
Additional neurological features have recently been described in seven families transmitting pathogenic mutations in OPA1, the most common cause of autosomal dominant optic atrophy. However, the frequency of these syndromal 'dominant optic atrophy plus' variants and the extent of neurological involvement have not been established. In this large multi-centre study of 104 patients from 45 indepen...
F riedreich’s ataxia, an autosomal recessive neurodegenerative disorder, is the most common hereditary ataxia among white people. The disease is characterised by gait and limb ataxia, dysarthria, absent tendon reflexes, Babinski’s sign, impairment of position and vibratory senses, scoliosis, and pes cavus. Cardiac manifestations are prominent in some cases. Diabetes mellitus or carbohydrate int...
Sir, Autosomal dominant optic atrophy (DOA) is the most commonly diagnosed inherited optic neuropathy in clinical practice and the majority of patients harbour pathogenic mutations within the OPA1 gene (3q28-q29, OMIM 165500) (Yu-Wai-Man and Chinnery, 2013). OPA1 is a multifunctional protein located within the mitochondrial inner membrane and it regulates a number of critical cellular functions...
toxic optic neuropathy (ton) is a group of medical disorders which can be defined by visual impairment due to optic nerve damage by a toxin. the exposure to a toxic substance can occur at the workplace, with ingestion of materials/ foods containing a toxin, or the use of systemic medications. ton is a disease entity which is not only under-diagnosed, but also often diagnosed at a stage when rec...
the patient was a 22-year-old female with ataxia-telangiectasia presented with progressive dysphagia to solid food from 2 months ego. she had lost 17 kg in that period. physical findings were cachexia, telangiectasias of sclera, ataxia in limbs movements and epigastric tenderness.there was a tumoral lesion in gastric lesser curvature with extension to esophagogastric junction in endoscopy. path...
cerebellar ataxias are a heterogenous group of disorders, clinically and etiologically, that result in considerable health burden. finding out about the various etiologies, and their relative prevalences in the population suffering from cerebellar ataxia helps the clinician to perform a better management, in treatment process. this is a cross sectional study designed to estimate the relative pr...
Multiple sclerosis is an autoimmune disease caused by damage to the myelin of the nerve cells in the spinal cord and brain, MS was classified into 4 types including: Relasping/remitting (RR) primary/progressive (PP), secondary/progressive (SP), progressive/relapsing (PR). PR MS is one of the severe forms of MS that lead to inflammation associated physical, mental and vision dysfunction. Because...
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