Hallervorden-Spatz syndrome

[hal´er-for″den-spatz´] a hereditary disorder involving marked reduction in the number of myelin sheaths of the globus pallidus and substantia nigra, with accumulations of iron pigment, progressive rigidity beginning in the legs, choreoathetoid movements, dysarthria, and progressive mental deterioration.

Hal·ler·vor·den-Spatz syn·drome

(hah'lĕr-fōr-dĕn shpahts), a disorder characterized by dystonia with other extrapyramidal dysfunctions appearing in the first two decades of life; associated with large amounts of iron in the globus pallidus and substantia nigra. Synonym(s): Hallervorden syndrome, Hallervorden-Spatz disease, status dysmyelinisatus

Hallervorden-Spatz disease

A slowly progressive condition which is now grouped with the so-called neurodegeneration with brain iron accumulation syndromes and characterised by progressive degeneration of neural function with loss of ambulation up to 15 years after disease onset.
Molecular pathology
Mutation of PANK2 on chromosome 20p13, which encodes a protein belonging to the pantotheate kinase family, which catalyses the 1st step in the biosynthetic pathway leading to CoA production.

Hallervorden-Spatz syndrome

Hallervorden-Spatz disease Neurology An AR condition first seen in childhood or adolescence Clinical Progressive neurologic degeneration with defects in muscle tone–rigidity, choreoathetosis, torsion spasm–dystonia, parkinsonism, cerebellar ataxia, speech impairment, mental deterioration, generalized rigidity Imaging Cerebral atrophy by CT DiffDx Dementia with extrapyramidal motor defects, Wilson's disease Management None Prognosis Poor; death within 10 yrs of onset.

Hal·ler·vor·den-Spatz syn·drome

(hah'lĕr-fōr'den-shpahts sin'drōm) A disorder characterized by dystonia with other extrapyramidal dysfunctions appearing in the first two decades of life; associated with large amounts of iron in the globus pallidus and substantia nigra.

Hallervorden,

Julius, German neurologist, 1882-1965. Hallervorden syndrome - Synonym(s): Hallervorden-Spatz syndromeHallervorden-Spatz disease - Synonym(s): Hallervorden-Spatz syndromeHallervorden-Spatz syndrome - a disorder characterized by dystonia with other extrapyramidal dysfunctions. Synonym(s): Hallervorden-Spatz disease; Hallervorden syndrome; status dysmyelinisatus

Spatz,

Hugo, German neurologist and psychiatrist, 1888-1969. Hallervorden-Spatz disease - Synonym(s): Hallervorden-Spatz syndromeHallervorden-Spatz syndrome - see under Hallervorden

Hal·ler·vor·den-Spatz syn·drome

(hah'lĕr-fōr'den-shpahts sin'drōm) Disorder characterized by dystonia with other extrapyramidal dysfunctions appearing in the first two decades of life.

单词	hallervorden-spatz syndrome
释义	Hallervorden-Spatz syndrome Hallervorden-Spatz syndrome [hal´er-for″den-spatz´] a hereditary disorder involving marked reduction in the number of myelin sheaths of the globus pallidus and substantia nigra, with accumulations of iron pigment, progressive rigidity beginning in the legs, choreoathetoid movements, dysarthria, and progressive mental deterioration. Hal·ler·vor·den-Spatz syn·drome (hah'lĕr-fōr-dĕn shpahts), a disorder characterized by dystonia with other extrapyramidal dysfunctions appearing in the first two decades of life; associated with large amounts of iron in the globus pallidus and substantia nigra. Synonym(s): Hallervorden syndrome, Hallervorden-Spatz disease, status dysmyelinisatus Hallervorden-Spatz disease A slowly progressive condition which is now grouped with the so-called neurodegeneration with brain iron accumulation syndromes and characterised by progressive degeneration of neural function with loss of ambulation up to 15 years after disease onset. Molecular pathology Mutation of PANK2 on chromosome 20p13, which encodes a protein belonging to the pantotheate kinase family, which catalyses the 1st step in the biosynthetic pathway leading to CoA production. Hallervorden-Spatz syndrome Hallervorden-Spatz disease Neurology An AR condition first seen in childhood or adolescence Clinical Progressive neurologic degeneration with defects in muscle tone–rigidity, choreoathetosis, torsion spasm–dystonia, parkinsonism, cerebellar ataxia, speech impairment, mental deterioration, generalized rigidity Imaging Cerebral atrophy by CT DiffDx Dementia with extrapyramidal motor defects, Wilson's disease Management None Prognosis Poor; death within 10 yrs of onset. Hal·ler·vor·den-Spatz syn·drome (hah'lĕr-fōr'den-shpahts sin'drōm) A disorder characterized by dystonia with other extrapyramidal dysfunctions appearing in the first two decades of life; associated with large amounts of iron in the globus pallidus and substantia nigra. Hallervorden, Julius, German neurologist, 1882-1965. Hallervorden syndrome - Synonym(s): Hallervorden-Spatz syndromeHallervorden-Spatz disease - Synonym(s): Hallervorden-Spatz syndromeHallervorden-Spatz syndrome - a disorder characterized by dystonia with other extrapyramidal dysfunctions. Synonym(s): Hallervorden-Spatz disease; Hallervorden syndrome; status dysmyelinisatus Spatz, Hugo, German neurologist and psychiatrist, 1888-1969. Hallervorden-Spatz disease - Synonym(s): Hallervorden-Spatz syndromeHallervorden-Spatz syndrome - see under Hallervorden Hal·ler·vor·den-Spatz syn·drome (hah'lĕr-fōr'den-shpahts sin'drōm) Disorder characterized by dystonia with other extrapyramidal dysfunctions appearing in the first two decades of life. AcronymsSeeHSS
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