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What is Fahr’s Syndrome?

Fahr’s Syndrome is a rare, genetic neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.

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Description

Fahr’s Syndrome is a rare, genetic neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.

Acknowledgement

Acknowledgement of Fahr’s Syndrome has not been added yet.

Prevalence

Prevalence Information of Fahr’s Syndrome has not been added yet.

Synonyms

Synonyms for Fahr’s Syndrome has not been added yet.

Cause

A locus at 14q has been suggested, but no gene has been identified.[8] A second locus has been identified on chromosome 8[9] and a third has been reported on chromosome 2.[10] This suggests there may be some genetic heterogenetity in this disease.[11] A mutation in the gene encoding the type III sodium dependent phosphate transporter 2 (SLC20A2) located on chromosome 8 has been reported.[12] Biochemical evidence suggests that phosphate transport may be involved in this disease. Basal ganglia calcification may occur as a consequence of several other known genetic conditions and these have to be excluded before a diagnosis can be made.[13][14][15][16]

Symptoms

The disease usually manifests itself in the third to fifth decade of life but may appear in childhood or later in life.[18] It usually presents with clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements or muscle cramping. Seizures of various types are common. Neuropsychiatric symptoms, which may be the first or the most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia.[19] The diagnosis requires: the presence of bilateral calcification of the basal ganglia the presence of progressive neurologic dysfunction the absence of an alternative metabolic, infectious, toxic or traumatic cause a family history consistent with autosomal dominant inheritance The calcification is usually identified on CT scan but may be visible on plain films of the skull.

Diagnosis

The diagnosis requires: the presence of bilateral calcification of the basal ganglia the presence of progressive neurologic dysfunction the absence of an alternative metabolic, infectious, toxic or traumatic cause a family history consistent with autosomal dominant inheritance The calcification is usually identified on CT scan but may be visible on plain films of the skull.

Diagnostic Test

Diagnostic tests of Fahr’s Syndrome has not been added yet

Treatment

There is currently no cure for Fahr's Syndrome, nor a standard course of treatment. The available treatment is directed symptomatic control. If parkinsonian features develop there is generally poor response to levodopa therapy. Case reports have suggested that haloperidol or lithium carbonate may help with psychotic symptoms.[22] One case report described an improvement with the use of a bisphosphonate.[23] Genetic counseling may be helpful.

Prognosis

The prognosis for any individual with Fahr's Syndrome is variable and hard to predict. There is no reliable correlation between age, extent of calcium deposits in the brain, and neurological deficit. Since the appearance of calcification is age-dependent, a CT scan could be negative in a gene carrier who is younger than the age of 55. Progressive neurological deterioration generally results in disability and death.

Tips or Suggestions

Tips or Suggestions of Fahr’s Syndrome has not been added yet.

References

References of Fahr’s Syndrome has not been added yet.

Symptoms Created by bmil
Last updated 15 Mar 2014, 11:13 AM

Posted by LeeJay
15 Mar 2014, 11:13 AM

Hi. My friend was initially diagnosed with Fahr's in October after a series of fits and CT scan. This has now been changed to http://en.wikipedia.org/wiki/Pseudopseudohypoparathyroidism and he is seeking help.

Posted by bmil
15 Mar 2014, 12:44 AM

Hello, My name is Brigitte and I am really confused if I have this disease or not. The CT scan says yes and I may have some symptoms or are they of other illnesses? I will see a neurologist in 2 weeks. I really would like detailed symptoms from real people and not abstracts or case studies. If anyone would care to share i'd appreciate it.

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Introduction Created by SyntheticSonny
Last updated 22 Mar 2013, 02:09 AM

Posted by hometowndr
22 Mar 2013, 02:09 AM

Hi I'm 36 year old female, I have no symptoms of note. A week and half ago I was working in my storage room and was hit on my nose. So protocol is CT Scan of sinuses. After that the radiologist stated I need to have a full brain CT Scan. I did the results devastated me. It's dense and a lot of it. Looking back at family members I discover two of my three uncles passed with this then my dad as well. The good news I guess is my grandmother died at 77 with it, the uncles died between 55-65 years of age. I've not found any experts for this disease, which is discouraging.

Posted by suemoo
2 Mar 2013, 06:22 PM

Hi Sonny, my mother was just diagnosed and I will be tested soon. I am in my 50\s and have suffered with leg tremors for about 15 years, they could not find the cause of my parkinsonism, but I do have severe osteoarthritis throughout my spine.. Fortunately I have not had any issues with my short term memory, my main issues are movement disorder and mobility issues. I do also suffer with mild OCD and my vitamin D levels are very low. I have read that these are also associated with Fahrs Syndrome. I cant wait to be tested! Finally after all these years, I might find out the source of my mobility problem. I am excited.

Posted by SyntheticSonny
8 Jan 2013, 08:15 PM

Hello there, I see there are a few other members besides myself w/ this condition. I thought maybe we can introduce ourselves and say a little about how it affects you. My name is Sonny, I'm 30 yrs old and was diagnosed when I was 21 but started seeing a difference around 27... I am forgetful a lot, my short term memory is really bad that affects everyday living.

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Community Resources

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Clinical Trials

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

Complete the screening form.
Review the informed consent.
Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.