Definition:
Fazio Londe syndrome is an uncommon hereditary ‘motor neuron' disorder found in young adults and children. The disease is distinguished by progressive weakness of the muscle that ultimately results to untimely death. Neuromuscular transmission in these muscles might be abnormal due to immature reinervation and rapid denervation. The disease can progress to an affected person's death in as short as nine months, or can have slow evolution.
Diagnosis:
Fazio Londe syndrome is diagnosed through history, physical examination, and laboratory tests.
Treatment:
Currently, no cure or standard treatments have been found for the disease. However, its early detection provides an optimal situation wherein doctors can devise a treatment plan for the condition.
Symptoms and Signs:
Symptoms of the disease includes swallowing difficulty, respiratory difficulty, gag reflex absence, progressive weakness of muscle, facial diplegia, dysphonia, speaking difficulty, facial weakness, drooping upper eyelid, decreased diaphragm motility, reduced reflexes, and premature death. Onset of initial symptom has been accounted to be between one to two years, with a denoting age of symptom onset at eight years.
Causes:
The cause of Fazio Londe syndrome is unknown, but gene mutations involved in the proper function of the motor neuron is believed to cause the disease. Genetic expression can either be an ‘autosomal recessive' or ‘autosomal dominant' type.
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