Familial British dementia

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Familial British Dementia

Familial British Dementia (pronounced: fuh-MIL-ee-uhl BRIT-ish dih-MEN-shuh), also known as FBD is a rare form of dementia that is inherited within families.

Etymology

The term "Familial British Dementia" is derived from the nature and geographical origin of the disease. "Familial" refers to the hereditary nature of the condition, "British" indicates the geographical region where the disease was first identified, and "dementia" is a general term for a decline in mental ability severe enough to interfere with daily life.

Definition

Familial British Dementia is a progressive neurological disorder characterized by intellectual deterioration, spasticity, and cerebellar ataxia. It is caused by a mutation in the BRI2 gene, which leads to the accumulation of a specific protein called ABri in the brain.

Symptoms

The symptoms of Familial British Dementia typically begin in mid-adulthood and progress over time. They include memory loss, personality changes, and difficulties with movement. As the disease progresses, individuals may experience severe cognitive impairment, muscle stiffness (spasticity), and problems with coordination and balance (cerebellar ataxia).

Diagnosis

Diagnosis of Familial British Dementia is based on the presence of characteristic clinical features, a detailed patient history, a thorough clinical evaluation, and specialized tests such as genetic testing to identify the BRI2 gene mutation.

Treatment

There is currently no cure for Familial British Dementia. Treatment is symptomatic and supportive, focusing on managing the symptoms and improving the quality of life for individuals with the disease. This may include medications to manage symptoms, physical therapy to help with movement problems, and counseling to help individuals and their families cope with the emotional impact of the disease.

Related Terms

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