I had a strange episode the other night.
I woke up and thought I had had a stroke. My legs were like jelly, my arms had no strength, and movement was very slow motion. My brain was functioning quite well, although I had no volume to my speech.
I contemplated ringing the ambulance, but decided to stay calm , breathe deeply and do all the tests the doctors would do to diagnose a stroke. I took an asprin, and lay there slowly trying to regain control. It took 30 minutes, and slowly my strength came back. Was it a panick attack, was it a mini stroke, was it something weird? The CT scan the following morning came back clear, except for a diagnosis of, "normal scan. idiopathic calcification of the basal ganglia.'

Normal, it stated clearly. In fact, it was so normal that my doctor didn't even look at the result, until I brought it up. But when I asked her opinion about it, she didn't have a clue what it was. I have been feeling dizzy, slightly off balance, have aching muscles for 2 years, occasional facial neuropathy, headaches, and strange depression, which I never realy had. I am 52, but the doctors cannot work it out. I should be healthy.

This page will attempt to provide information about this 'rare disease", as I gather data from as many places as possible. It may not be the cause of my present symptoms, but so far in my research, it appears that it will undoubtedly have some effects at one point in my life. If anyone has any information, please add it to the page. Please click on my post headlines to take you direct to the relevant sites.Cheers.

Thursday, April 29, 2010

Gene Reviews-updated Sept 2007

Disease characteristics. Familial idiopathic basal ganglia calcification (FIBGC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the third to fifth decade with gradually progressive neuropsychiatric and movement disorders. The first manifestations often include clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Seizures of various types occur frequently. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia.

Diagnosis/testing. The diagnosis of FIBGC relies on visualization of bilateral calcification of the basal ganglia on neuroimaging; presence of progressive neurologic dysfunction; metabolic, infectious, toxic, or traumatic cause; and a family history consistent with autosomal dominant inheritance. The gene or genes responsible for FIBGC are unknown. Linkage to chromosome 14q has been established in one family.

Management. Treatment of manifestations: pharmacologic treatment to improve anxiety, depression, obsessive-compulsive behaviors, and dystonia; oxybutynin for urinary incontinence; appropriate antiepileptic drugs (AEDs) for seizures. Surveillance: annual neurologic and neuropsychiatric assessments. Agents/circumstances to avoid: cautious use of neuroleptic medication as it may exacerbate extrapyramidal symptoms. Other: generally poor response of parkinsonian features to levodopa therapy.

Genetic counseling. Familial idiopathic basal ganglia calcification is inherited in an autosomal dominant manner. The proportion of cases caused by de novo gene mutations is unknown. Offspring of an affected individual have a 50% risk of being affected. Prenatal testing is not available. MORE

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