Fazio–Londe syndrome
Fazio–Londe syndrome is a rare, inherited neurological disorder that primarily affects the nervous system. It is also known as progressive bulbar palsy of childhood. The syndrome is named after the Italian physicians, Angelo Fazio and Louis Londe, who first described the condition in the late 19th century.
Symptoms[edit | edit source]
The symptoms of Fazio–Londe syndrome typically begin in childhood or adolescence. The most common symptoms include difficulty swallowing (dysphagia), slurred speech (dysarthria), and progressive weakness and wasting (atrophy) of the tongue and facial muscles. Other symptoms may include breathing problems, weakness in the limbs, and hearing loss.
Causes[edit | edit source]
Fazio–Londe syndrome is caused by mutations in the SLC52A3 gene, also known as the C20orf54 gene. This gene provides instructions for making a protein that is involved in the transport of riboflavin (vitamin B2) into cells. Riboflavin is needed for certain chemical reactions in the body, and a shortage of this vitamin can disrupt normal cellular functions.
Diagnosis[edit | edit source]
Diagnosis of Fazio–Londe syndrome is based on the clinical symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include electromyography (EMG), which measures the electrical activity of muscle cells, and genetic testing to identify mutations in the SLC52A3 gene.
Treatment[edit | edit source]
There is currently no cure for Fazio–Londe syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and other interventions to manage symptoms. In some cases, supplementation with riboflavin may be beneficial.
Prognosis[edit | edit source]
The prognosis for individuals with Fazio–Londe syndrome varies. Some individuals may experience a slow progression of symptoms over many years, while others may experience a more rapid progression of the disease.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Fazio–Londe syndrome is a rare disease.
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