Sometimes individuals with basal ganglia lesions may exhibit a variety of motor impairments. The slowness of motion, uncontrollable excess movement, changes in posture, and changes in muscle tone are some of the key clinical manifestations in such cases. As a result, individuals with basal ganglia involvement can exhibit a spectrum of maladaptive motor behavior, ranging from severely restricted movement in the late stages of Parkinson's disease to excessive movement in Huntington's disease. Movement abnormalities, particularly parkinsonism, which affects more than half of patients, were the most prevalent symptoms in "Fahr's Disease Registry."
Fahr's Syndrome is an inherited genetic condition marked by abnormal calcium deposits in parts of the brain responsible for controlling movement. Atrophy is brought on by calcium buildup in the cerebral, cortical, and basal ganglia regions (sections of the brain). A considerable loss of neurons (brain cells) is caused by this mineral deposit, which causes cognitive and motor impairments. In Fahr's Syndrome, the following regions are impacted −
Basal ganglia (most commonly the globus pallidus)
Cerebellum (most commonly the dentate nucleus)
Thalamus
Hippocampus
Cerebral cortex
Due to the paucity of study into Fahr's syndrome's molecular genetics, there is little biological and genetic evidence. Idiopathic basal ganglia calcification, on the other hand, has been linked to the gene IBGC1. Chromosome 8 and chromosome 2 have been identified as a second locus for the genetic pathophysiology of Fahr's. Fahr's Syndrome often affects people in their 40s and 50s, although it sporadically manifests in childhood or adolescence. Less than 1 in 1,000,000 people have the illness
Memory loss, Parkinsonian and chorea−like symptoms, and various neurological and neuropsychiatric symptoms are all common in Fahr's disease patients. Clinical characteristics include −
Neurological issues − Seizures, unconsciousness, stiffness, gait problems, speech problems, memory loss or dementia−like symptoms, chorea (dancing motions), athetoid tremors and movements, dystonia (muscle spasms).
Movement disorders − Movement problems include dysphagia, unstable stride, slurred speech, clumsiness, and involuntary motions (difficulty in swallowing).
Neuropsychiatric issues − Mild to severe symptoms can be present in neuropsychiatric diseases. Mild memory loss to complete identity loss may be present in a person. There might be changes in behavior and personality. Psychosis is a related condition that is seen in some cases.
A person's overall health, family genetic history, personal medical history, and genetic history are all factors that neurologists and psychiatrists often consider while evaluating the patient.
To find calcification, a CT scan is typically advised. Additionally, an MRI is sometimes required. Additionally, advised are blood testing for alkaline phosphatase, manganese, phosphorus, and calcium levels. Cerebrospinal fluid analysis (CSF) is advised to look for infections and autoimmune diseases. As many of the symptoms of Fahr's are similar to those of other neurological and neuropsychiatric illnesses, diagnosing Fahr's needs considerable competence. Clinical symptoms are often included during diagnosis, along with other potential reasons being ruled out.
Other than mobility difficulties, many symptoms are frequently observed due to the heterogeneity of brain calcifications and accompanying limitations in Fahr's Syndrome. These include epilepsy, dysarthria, mental health issues, memory and attention issues, behavioral and personality abnormalities, psychosis, and dementia. Even though some of these symptoms might not be immediately manageable by physiotherapy interventions, they influence treatment choices and are vital to bear in mind while organizing patient care. The links below will take you to Physiopedia articles and other websites with additional details on these symptoms.
Etiology
Endocrine abnormalities, including parathyroid irregularities, characterize Fahr's Syndrome. Endocrine problems affect the body's metabolism, particularly serum calcium levels, which can cause excessive calcification in some brain regions. A related problem is a disruption in vitamin D levels. The metabolism of calcium is also linked to mitochondrial myopathies. Calcifying the basal ganglia is the most frequent radiological finding in mitochondrial myopathies.
Basal ganglia calcification is also associated with dermatological problems. One such disorder is lipoid proteinosis, characterized by symptoms such as dwarfism, dementia, hair loss, seizures, and photosensitivity. Infectious illnesses influence the calcification of the basal ganglia. Fahr's disease is often associated with toxoplasmosis, toxoplasmic gonorrhea, and toxoplasmic herpes. In the basal ganglia of older people, normal aging also causes calcification. However, it does not always result in Fahr's Syndrome in older individuals.
Individuals diagnosed with Fahr's Syndrome are treated with the help of different treatment approaches. The primary objectives are to reduce symptoms and maintain the patient's comfort and pain−free state. Pharmacological medications are frequently used to treat anxiety, sadness, and psychosis. Seizures are managed with antiepileptic medications such as carbamazepine and benzenes. Lithium and other antipsychotic drugs are used to treat depression and mood swings. Lithium should be taken cautiously since it might exacerbate gait problems such as lurching and wobbling. Alpha hydroxy vitamin D3 dosages may help to reduce Fahr's Syndrome caused by vitamin D.
The prognosis varies from person to person and is difficult to predict. Fahr's Syndrome is a chronic condition with no known cure or effective therapies. Due to the gradual and degenerative characteristics of Fahr's Syndrome, people frequently lose their motor control and previously gained abilities, which can be fatal. The degree of neurological deficits exhibited by a patient with the condition does not directly correlate with the number of calcium deposits in the brain. There is no conclusive link between age, the number of calcium deposits in the brain, and neurological deficiency. A CT scan may come out negative in a gene carrier who is younger than 55 since the presence of calcification is age−dependent.
Fahr's disease requires interdisciplinary treatment from caretakers, genetic counsellors, psychiatrists, neurologists, endocrinologists, and other medical professionals. There are no established guidelines for managing Fahr's disease, and doctors and other medical professionals treat patients individually. While the current focus of the study is on the pathophysiological processes that result in calcification in brain regions, further research into effective therapeutic approaches is necessary. Many medications being utilized now have adverse effects that affect hormone, hepatic, and renal function and are not well tolerated. Treatment approaches that stop neurological deterioration and loss of function must be improved.
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