نتایج جستجو برای: ataxia with ocular motor apraxia
تعداد نتایج: 9275574 فیلتر نتایج به سال:
Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia (ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia. The gene APTX, which encodes aprataxin, has been identified recently. We studied a large series of 158 families with non-Friedreich progressive ARCA. We identified 14 patients (nine families) with five different missens...
BACKGROUND Spasmus nutans and congenital ocular motor apraxia share clinical characteristics. However, their development in a patient with cerebellar vermian hypoplasia has not been previously described. OBJECTIVE To report spasmus nutans and congenital ocular motor apraxia in a child with cerebellar vermian hypoplasia. DESIGN Case report. SETTING Tertiary-care hospital. Patient A 7-year-...
Joubert syndrome is a rare autosomal recessive inherited disease associated with many signs and symptoms. (JS) was first discovered by Marie in 1969. Joubert’s presents as low muscle tone (hypotonia), have difficulty coordinating movements (ataxia), episodes of fast or slow breathing abnormal eye movement (ocular motor apraxia). Developmental delay intellectual disability generally accompany. A...
Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia, ocular apraxia, early areflexia, late peripheral neuropathy, slow progression, severe motor handicap, and absence of both telangiectasias and immunodeficiency. We studied 13 Portuguese families with AOA and found that the two largest families show linkage to 9p, with LOD scores of 4.13 and 3.82, respectively...
BACKGROUND The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia. Hyperkinetic movement disorders occur in a significant proportion of patients, and may sometimes be the presenting motor symptom. Presentations with involuntary movements rather than ataxia are diagnostically challenging, an...
Congenital ocular motor apraxia, described in 1952 by Professor David Cogan, is characterized by defective or absent voluntary and optically induced horizontal saccades and compensatory jerky head movements or thrusts to accomplish ocular refixation (1-3). The most common initial sign is the inability to follow objects visually. The diagnosis is usually made between the fourth and eighth months...
Nine patients with congenital ocular motor apraxia (COMA) are presented and the natural history of this condition is considered. Two presented in early infancy, before the onset of the head thrust, and the means of establishing the diagnosis at this age are discussed. All exhibited motor delay in infancy which lessened, but did not completely resolve, with time. Conceptual delay, particularly w...
Ataxia-telangiectasia syndrome is an autosomal recessive associated with combined immunodeficiency, progressive cerebellum ataxia, telangiectasia, ocolomotor apraxia, dysartheria and respiratory infections. In this study we reported three cases from a family with classical symptoms. Second sibling was died at 13 old years because severe respiratory infection but third and forth siblings have ...
BACKGROUND We describe the clinical characteristics of a Swedish family with autosomal dominant cerebellar ataxia, sensory and autonomic neuropathy, additional neurological features and unknown genetic cause. METHODS Fourteen affected family members were identified. Their disorder was characterized by neurological examination, MRI, electroneurography, electromyography, MIBG-scintigraphy, and ...
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