Pompe disease is a progressive, chronic and unfortunately fatal disease if early diagnosis and treatment are not available. It is a lysosomal storage disease, a rare, genetic, inherited disease that can affect newborns, children, adolescents and adults, as well as men and women, with equal probability.
Two forms are shown: the infantile variant and the late form. The first shows muscle weakness before 12 months of life and is associated with a large heart.
They are rapidly progressive complications hypotonia and muscle weaknessrespiratory distress and loss ability ventilate independently. Most patients die before the first year of life, writes “New Born Screening”.
It is a late variant heterogeneous in the form and age of presentation, since although muscle weakness occurs after one year of life, there are reports where symptoms they start after the sixth decade of life.
This variant does not heart compromise and is presented as muscle damage primarily in the shoulder and pelvic girdle at the beginning.
Progression is relatively slow at waist level, which inevitably leads to the need for a wheelchair. one of the demonstrations characteristics Pompe disease is a rapid evolution of respiratory disorder due to muscle weakness breathingwhich may lead to the need for respiratory assistance in the stages before the need for a wheelchair.
“It is important to know that Pompe disease has a specific therapy that stops the progression of the disease, stabilizes the patient and sometimes reverses the symptoms, but this is achieved by early diagnosis and specific treatment of the disease,” said Dr. Jorge Ortiz, medical manager of Sanofi Genzyme.
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Timely diagnosis and early initiation of treatment enable a better prognosis for emergency patients and facilitate the modification of the natural course of the disease.
Fact
Due to the fact that rare diseases and Pompe disease within them are not very widespread, medical experience and scientific research it is scarce.
This means that the offer of comprehensive care is insufficient, and there are many of them difficulties in access to specialized diagnostic tests at the local level, as well as specific treatments, says Ortiz.
Source: Panama America
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