Portuguese Polyneuritic Amyloidosis is a rare, hereditary disorder that primarily affects the peripheral nervous system, leading to sensory and motor disturbances. It is also known as Transthyretin Amyloidosis (ATTR), as it is caused by mutations in the transthyretin (TTR) gene.
This condition is specifically called Portuguese Polyneuritic Amyloidosis because it was initially identified in the northern regions of Portugal, where a specific mutation in the TTR gene is prevalent. However, cases of the disorder have now been reported in other countries as well.
The main characteristic of Portuguese Polyneuritic Amyloidosis is the accumulation of abnormal TTR protein in various tissues, especially in the nerves. This protein buildup forms amyloid fibrils, which can disrupt normal nerve function and lead to progressive neuropathy. Symptoms may include numbness, tingling, weakness, and loss of coordination, primarily in the limbs.
As Portuguese Polyneuritic Amyloidosis is an inherited disorder, it typically presents in adulthood but can have variable age of onset and severity. The disease can progress at different rates, with some individuals experiencing mild symptoms while others may become severely and permanently disabled.
Diagnosis of Portuguese Polyneuritic Amyloidosis involves a combination of clinical assessment, genetic testing to identify mutations in the TTR gene, and biopsy of affected tissues. Although there is no cure for this condition, symptom management and supportive treatments, such as physical therapy and pain medication, can help improve quality of life for affected individuals.
In conclusion, Portuguese Polyneuritic Amyloidosis is a genetic disorder characterized by the accumulation of abnormal TTR protein in tissues, leading to peripheral nerve damage and neurological symptoms.
