Srivastava 2 , Sheffali Gulati 3 , Moganty R. Rajeswari 1. Current research focused on therapeutic interventions aimed at molecular amelioration, but there are no reliable noninvasive signatures available to understand disease pathogenesis. The present study is expected to aid in the understanding of disease pathogenesis. Applying the PRISMA statement several studies were selected according to eligibility criteria and organized for the review.
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Directory of Open Access Journals Sweden. Among the causes of insidious, bilateral and symmetric loss of the central vision, the hereditary and degenerative optical atrophies should always be taken into account. The dominant autosomal hereditary optical atrophy is the most frequent form of simple or monosymptomatic hereditary family optical atrophy.
The clinical characterization of a family with the diagnosis of this visual impairment was made. Objetivo: Comprobar el efecto de una Las sorderas hereditarias : Algunos apuntes necesarios. El modelo combina las regla de herencia con la frecuencia real de herencias en el matrimonio.
Los resultados indican el impacto despreciable de las posibilidades de herencia en las estrategias de matrimonio. Spino cerebellar ataxia SCA are a complex group of hereditary neurodegenerative disturbances of autosomal dominant pattern. They are largely characterized by the clinical presence of cerebellar ataxia related to ophtalmoplegia, dysarthria, pyramidal and extra-pyramidal signs and loss of deep sensitivity.
The characteristic clinical feature of SCA7 is the loss of visual acuity and blindness. We present here three cases of ataxia , from the same family, with loss of visual acuity and other neurological disorders. The diagnosis. En los pacientes con esferocitosis hereditaria , la CHCM Hereditary spherocytosis is a group of heterogenous disorders characterized by variability in its clinical manifestations, membrane protein defects and inheritance.
We analysed the sensitivity and specificity of mean corpuscular hemoglobin concentration MCHC and red cell distribution width RDW in the diagnostic screening of hereditary spherocytosis. Ninetyfour patients were compared to equal number of healthy, age-matched children. In patients with hereditary spherocytosis, MCHC By using a cutoff for the MCHC of Spinocerebellar ataxias Ataxias espinocerebelares. Full Text Available Spinocerebellar ataxias SCAs constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia.
SCAs are genotypically and phenotypically very heterogeneous. A clinical algorithm can be used to distinguish between the different types of SCAs. Manejo de un caso. En conjunto, afecta aproximadamente a 1 de cada personas en todo Clinical neurogenetics: friedreich ataxia. Friedreich ataxia is the most common autosomal recessive ataxia.
It is a progressive neurodegenerative disorder, typically with onset before 20 years of age. Signs and symptoms include progressive ataxia , ascending weakness and ascending loss of vibration and joint position senses, pes cavus, scoliosis, cardiomyopathy, and arrhythmias.
There are no disease-modifying medications to either slow or halt the progression of the disease, but research investigating therapies to increase endogenous frataxin production and decrease the downstream consequences of disrupted iron homeostasis is ongoing.
Clinical trials of promising medications are underway, and the treatment era of Friedreich ataxia is beginning. All rights reserved. Frontal ataxia in childhood. Frontal ataxia may be the result of a unilateral frontal lesion. In this report three cases are presented with ataxia due to right frontal lesions. One case concerns a boy presenting with an unsteady gait and titubation of the trunk, mimicking developmental disequilibrium and with complex partial.
It predominates in young men and is caused by mitochondrial DNA spot mutations. This is one of. Speech in spinocerebellar ataxia. Spinocerebellar ataxias SCAs are a heterogeneous group of autosomal dominant cerebellar ataxias clinically characterized by progressive ataxia , dysarthria and a range of other concomitant neurological symptoms.
Only a few studies include detailed characterization of speech symptoms in SCA. Speech symptoms in SCA resemble ataxic dysarthria but symptoms related to phonation may be more prominent. One study to date has shown an association between differences in speech and voice symptoms related to genotype. More studies of speech and voice phenotypes are motivated, to possibly aid in clinical diagnosis.
In addition, instrumental speech analysis has been demonstrated to be a reliable measure that may be used to monitor disease progression or therapy outcomes in possible future pharmacological treatments. Intervention by speech and language pathologists should go beyond assessment. Clinical guidelines for management of speech, communication and swallowing need to be developed for individuals with progressive cerebellar ataxia. One case concerns a boy presenting with an unsteady gait and titubation of the trunk, mimicking developmental disequilibrium and with complex partial seizures.
It proved to be caused by a small right-sided cavernoma in the middle frontal gyrus. After surgical intervention the symptoms and the seizures disappeared. Two subsequent cases concern teen Ataxias agudas en la infancia. Descritas dentro del grupo de las cerebelitis agudas. Estudiamos 95 pacientes.
Two subsequent cases concern teenage patients presenting with headache after an ENT infection and on physical examination mild dysmetric function of the upper limbs and slight disequilibrium, due to right-sided frontal lobe abscesses. After neurosurgical and antibiotic therapy the symptoms were relieved. The frontal origin of ataxia should be considered in children presenting with a "cerebellar syndrome". Frontal gait disorders consist of a clinical pattern of different gait disorders.
The syndrome has been mentioned in the literature under different names. Our patients show signs compatible with the term frontal disequilibrium, a clinical pattern of frontal gait disorder. This assumes walking problems characterized by loss of control of motor planning, leading to imbalance. Remarkably, frontal ataxia may mimic developmental delay as demonstrated in the first case and may be the leading mild symptom in extensive frontal lobe damage as demonstrated by the two other cases.
We suppose that frontal ataxia is the result of a disturbance in the cerebellar-frontal circuitries and an impairment of executive and planning functions of the basal ganglia-frontal lobe circuitry. Sleep disorders in cerebellar ataxias. Full Text Available Cerebellar ataxias comprise a wide range of etiologies leading to central nervous system-related motor and non-motor symptoms. Recently, a large body of evidence has demonstrated a high frequency of non-motor manifestations in cerebellar ataxias , specially in autosomal dominant spinocerebellar ataxias SCA.
Among these non-motor dysfunctions, sleep disorders have been recognized, although still under or even misdiagnosed. The development of new techniques allowed finding out the first biochemical alterations in erythrocyte membrane proteins and later on, the recombinant DNA techniques made possible to detect molecular alternations. HS is a very heterogeneous disease caused by an intrinsic defect of red cells; there are other secondary disorders to this affection.
The most used test for diagnosing HS is the osmotic fragility of the red cell. It has been proved that this disease is caused by defects in proteins participating in vertical. Enfermedad cardiovascular en pacientes cubanos afectados por Ataxia de Friedreich. Hereditary spherocytosis is the most common congenital hemolytic anemia among Caucasian population.
It has wide clinical variety and from the haematological point of view, it is characterized by the presence of spherocytes anemia in peripheral lamina.
Its pathophysiological defect is determined by some of the proteins that make up the red cell membrane due to the effect on erythrocytes of abnormal spleen, and other factors. In view of current knowledge, the dynamic interpretation of this process requires delving into the early stages of hematopoiesis, since the expression of this disease could modulate from early stages of erythroblast enucleation in reticulocyte formation until late potential inflammatory processes.
A review was made on the structural and functional characteristics of the erythrocyte membrane, as well as some general. Autosomal dominant hereditary ataxia in Sri Lanka. Background Spinocerebellar ataxias SCA are a group of hereditary neurodegenerative disorders. Prevalence of SCA subtypes differ worldwide. Autosomal dominant ataxias are the commonest types of inherited ataxias seen in Sri Lanka.
The aim of the study is to determine the genetic etiology of patients with autosomal dominant ataxia in Sri Lanka and to describe the clinical features of each genetic subtype. Ataxia telangiectasia: a review. Full Text Available Abstract Definition of the disease Ataxia telangiectasia A-T is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity.
A-T is often referred to as a genome instability or DNA damage response syndrome. Epidemiology The world-wide prevalence of A-T is estimated to be between 1 in 40, and 1 in , live births. Clinical description A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages.
Neurological symptoms most often first appear in early childhood when children begin to sit or walk. They have immunological abnormalities including immunoglobulin and antibody deficiencies and lymphopenia.
People with A-T have an increased predisposition for cancers, particularly of lymphoid origin. Pulmonary disease and problems with feeding, swallowing and nutrition are common, and there also may be dermatological and endocrine manifestations.
The primary role of the ATM protein is coordination of cellular signaling pathways in response to DNA double strand breaks, oxidative stress and other genotoxic stress. Diagnosis The diagnosis of A-T is usually suspected by the combination of neurologic clinical features ataxia , abnormal control of eye movement, and postural instability with one or more of the following which may vary in their appearance: telangiectasia, frequent sinopulmonary infections and specific laboratory abnormalities e.
IgA deficiency, lymphopenia especially affecting T lymphocytes and increased alpha-fetoprotein levels. Because certain neurological features may arise later, a diagnosis of A-T should be carefully considered for any ataxic child with an otherwise elusive diagnosis.
A diagnosis of A-T can be confirmed by the. Puede presentar mayor frecuencia de complicaciones y resultados adversos tanto en la madre como en el feto. Hashimoto thyroiditis associated with ataxia telangiectasia. Ataxia telangiectasia is a rare genetic disease characterized by neurological manifestations, infections, and cancers.
Referencias científicas Nº 162
This research aims to determine the effects of a dance program in dialogue with somatic education in psychomotor aspects in a subject with Friedreich ataxia. We performed a dance program with 24 interventions on a subject with Friedreich Ataxia, and assessed pre- and post-program through the Monitoring Instrument Learning in Educational Dance. The results showed that the dance program with somatic education can improve the analyzed skills: getting up, sitting, shifting feet, shifting the ground, sitting position, body image, movement rhythm, and fluency movement. Studies on the interface between dance and disability were started in Brazil in the s, and have intensified in the recent years 1.
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