Finnish Type Familial Amyloid Neuropathy (Finnish TTRamyloidosis) is a rare, hereditary, and progressive neurological disorder characterized by the depositing of abnormal protein, known as amyloid, throughout the body. This condition mainly affects the nerves, leading to a range of symptoms including sensory loss, muscle weakness, pain, and autonomic dysfunction.
Finnish Type Familial Amyloid Neuropathy is caused by a mutation in the transthyretin (TTR) gene, which is responsible for producing a protein involved in transporting thyroid hormones and vitamin A throughout the body. The mutated TTR protein forms amyloid deposits that accumulate within nerve tissues, impairing their function and causing nerve damage.
The onset of symptoms in Finnish Type Familial Amyloid Neuropathy typically occurs between the ages of 20 and 40, although there is considerable variation in the age of onset and severity of the condition between affected individuals. The disease progression is generally slow but can lead to debilitating neurological complications, affecting the patient's quality of life.
Diagnosis of Finnish Type Familial Amyloid Neuropathy involves a combination of clinical evaluation, genetic testing, and examining the amyloid deposits through a biopsy. Treatment options for this condition are currently limited and mainly focus on managing symptoms and delaying disease progression.
In conclusion, Finnish Type Familial Amyloid Neuropathy is a rare genetic disorder characterized by abnormal protein deposition in nerve tissues. It can lead to various neurological symptoms, originating from the mutation in the transthyretin gene. This condition poses challenges in diagnosis and treatment, highlighting the need for ongoing research and advancements in understanding this complex disorder.
