HALLERVORDEN SPATZ DISEASE PDF

The diagnosis is made by a combination of clinical and imaging features, however, genetic testing and full gene sequencing of the PANK2 gene to identify biallelic PANK2 pathogenic variants is considered the gold standard Radiographic features Reflects areas of iron deposition, mainly in the globi pallidi, substantia nigra, and red nuclei. The eye of the tiger sign refers to a central T2 relatively hyperintense spot line within the hypointense globi pallidi due to gliosis and vacuolisation 3. Hugo Spatz,was Director of his division. References 1.

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Publications Definition Neurodegeneration with brain iron accumulation NBIA is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. Visual changes are also common, most often due to atrophy of the optic nerve optic atrophy or degeneration of the retinal layer in the back of the eye retinal degeneration.

Several genes have been found that cause NBIA. Many medications are available to treat the primary symptoms of dystonia and spasticity, including oral medications, intrathecal baclofen pump in which a small pump is implanted under the skin and is programmed to deliver a specific amount of medication on a regular basis , deep brain stimulation, and botulinum toxin injection.

View Full Treatment Information Definition Neurodegeneration with brain iron accumulation NBIA is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. Prognosis NBIA is a progressive condition.

Most individuals experience periods of rapid decline lasting weeks to months, with relatively stable periods in between. The rate of progression correlates with the age at onset, meaning that children with early symptoms tend to fare more poorly. For those with early onset, dystonia and spasticity can eventually limit the ability to walk, usually leading to use of a wheelchair by the midteens.

Life expectancy is variable, although premature death does occur in NBIA. Premature death usually occurs due to secondary complications such as impaired swallowing or confinement to a bed or wheelchair, which can lead to poor nutrition or aspiration pneumonia. With improved medical care, however, a greater number of affected individuals reach adulthood.

For those with atypical, late-onset NBIA, many are diagnosed as adults and live well into adulthood.

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Neurodegeneration with Brain Iron Accumulation Information Page

Publications Definition Neurodegeneration with brain iron accumulation NBIA is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. Visual changes are also common, most often due to atrophy of the optic nerve optic atrophy or degeneration of the retinal layer in the back of the eye retinal degeneration. Several genes have been found that cause NBIA. Many medications are available to treat the primary symptoms of dystonia and spasticity, including oral medications, intrathecal baclofen pump in which a small pump is implanted under the skin and is programmed to deliver a specific amount of medication on a regular basis , deep brain stimulation, and botulinum toxin injection.

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Hallervorden-Spatz disease

These individuals face significant speech deficits as well as psychiatric and behavioral disturbances. Being a progressive, degenerative nerve illness, PKAN leads to early immobility and often death by early adulthood. Death occurs prematurely due to infections such as pneumonia, and the disease in itself is technically not life limiting. Genetics[ edit ] PKAN is an autosomal recessive disorder. Both the parents of an afflicted child must be heterozygous carriers for the disease and therefore must carry one mutant allele. As it is an autosomal disorder, those heterozygous for the disorder may not display any atypical characteristics that are considered suggestive of the disorder, however there have been reported cases of compound heterozygosity in which heterozygous individuals do develop the classic form of the disease.

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Neurodegeneration with brain iron accumulation (NBIA)

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Hallervorden-Spatz Disease

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