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A form of spinocerebellar ataxia associated with chorioretinal dystrophy and hypogonadotropic hypogonadism.

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Unknown. Only 19 cases from 10 families have been reported in the literature. The syndrome remains poorly recognized and probably underreported.

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Pleiotropic single-gene disorder with an autosomal recessive pattern of inheritance.

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The tissues involved are all of neuroectodermal origin; however, the exact link between the three features is unclear. The nature of the gene involved and its specific role in the pathophysiology are unknown. The absence of a response to luteinizing hormone also suggests disturbed pituitary function. The abnormal pattern of the thyroid-stimulating hormone and prolactin response to thyrotropin-releasing hormone plus the growth hormone response to gonadotropin-releasing factor and insulin-induced hypoglycemia also point to a hypothalamic involvement.

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Clinical findings consistent with the syndrome. No specific diagnostic tests are available. CT and/or MRI scans show evidence of cerebellar atrophy. Serum levels of luteinizing hormone, follicle-stimulating hormone, estrogen, and testosterone are abnormally low. Electroretinography is abnormal, with a marked reduction in the amplitude of both rods and cones. Fluorescein angiography demonstrates filling of the major choroidal vessels in the atrophic regions combined with an extensive loss in the choriocapillaris.

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Characterized by hypogonadotropic hypogonadism. Usually this disorder is diagnosed at the onset of puberty (primary amenorrhea, poor development of sexual organs, sparse growth of secondary hair, short stature, delayed puberty, delayed bone age, infertility), spinocerebellar ataxia (with a variable age of onset; impaired balance, ataxic gait, mild dysmetria on finger-to-nose testing, but marked dysmetria on heel-to-shin testing, nystagmus, bilateral extensor plantar responses), and choroidal dystrophy (variable age of onset, diffuse and slowly progressive, with involvement of the choriocapillaris, retinal pigment epithelium, and outer retina, resulting in loss of visual acuity with a dense ring scotoma and a spared central field). Muscle strength, sensibility, and proprioception are normal.

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Clinical history and examination to evaluate the progression of the condition.

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No specific anesthetic considerations.

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Patients are often on sex hormone replacement therapy (testosterone, estrogen, oral contraceptives). Depending on the procedure, deep vein thrombosis prophylaxis is recommended because of estrogen replacement therapy. No other specific pharmacological considerations.

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Gordon-Holmes Syndrome: Genetic disorder with hypogonadism and progressive cerebellar ataxia.

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Kallmann Syndrome: Inherited syndrome characterized by hypogonadotropic hypogonadism and anosmia caused by agenesis of the olfactory bulbs, often combined with other birth defects (cardiac anomalies, cleft lip/palate, renal anomalies).

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Other forms of spinocerebellar ataxia, such as the following:

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Machado-Joseph Disease: Form of autosomal dominant inherited spinocerebellar ataxia with clinical onset usually in adulthood but occasionally in adolescence.

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Infantile-Onset Spinocerebellar Ataxia (IOSCA): Some researchers also used the term spinocerebellar ataxia (SCA) type 8 for this disease, but the term has not been uniformly accepted. IOSCA is an inherited spinocerebellar ataxia with onset usually in the first 2 years of life.

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