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hallervorden-spatz disease…

 

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hallervorden-spatz disease, inherited, degenerative disease that, begins in childhood, involves progressive muscle rigidity, weakness, movement disorder, most cases of hallervorde-spatz, due to a mutation, in the gene responsible, making a protein, pantothenate kinase 2, patients, a mutated form of this gene accumulate iron in parts, the brain, the basal ganglia, symptoms typically begin in childhood, progressive, resulting in death by early adulthood, dystonia, rigidity/stiffness of limbs, tremor, writhing movements, dementia, spasticity, weakness, seizures, vision changes, degeneration of eyesight, a neurological examination would show evidence of muscle rigidity, weakness, abnormal postures, movements, tremors, family members, help determine the diagnosis, genetic tests, confirm an abnormal gene causing the disease, test is not yet widely available, movement disorders, diseases must be ruled out, an mri, shows iron deposits, in the basal ganglia, goal of treatment, control the symptoms, no specific treatment, hallervorden-spatz disease, many believe taking certain vitamins beneficial, pantothenate, coenzyme q, anti-oxidants, hallervorden-spatz, progressive, degenerative nerve illness, leads to early immobility, death by early adulthood, complications, treat symptoms, immobility, lead to skin breakdown, respiratory infections, blood clots, among others, call health care provider, child has symptoms of hallervorden-spatz disease, genetic counseling is appropriate in families, illness, no known way, prevent it.



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