نتایج جستجو برای: friedreichs ataxia
تعداد نتایج: 17854 فیلتر نتایج به سال:
Background: Rare comprehensive epidemiological studies of ataxia have been undertaken worldwide. Objective: To estimate the prevalence of cerebellar ataxia and its subtypes in Al-Kharga District New Valley. Methods: This is a community based study carried out through three stages. Total populations 62,583 were screened door to door (every door) by three specialists of neurology. All suspected p...
Ataxia, or incoordination of movement, is a disorder that can be caused by damage to several different nervous system structures. Common causes of ataxia include damage of the cerebellum and damage of sensory structures. Sensory ataxia is distinguishable from cerebellar ataxia, because the sensory ataxia causes symptoms to worsen when movements are made with the eyes closed. The basic mechanism...
OBJECTIVE Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy. Recently, an autosomal-dominant spinocerebellar ataxia (SCA) mutation was identified in a cohort of patients with non-MSA-C sporadic cerebellar ...
Abstract Background Abnormal eye movements are common in spinocerebellar ataxias Type 3 (SCA3). We conducted the research to explore frequency of abnormal Chinese patients with SCA3, compare demographic and clinical characteristics between SCA3 without each type movement, correlation severity ataxia. Methods Seventy-four were enrolled this cross-sectional study. Six types including impaired smo...
Friedrich’s ataxia (FRDA), a neurodevelopmental and progressive neurodegenerative disease, is the most common inherited form of ataxia. Omaveloxolone was approved by US Food Drugs Administration in early 2023, making it first treatment available to patients with FRDA. This approval made possible combining compelling cellular mechanism strong clinical evidence provided through MOXIe study, multi...
BACKGROUND Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy. To date, only a few families with autosomal dominant congenital nonprogressive spinocerebellar ataxia have been reported. Linkage to 3pter was...
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