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June 28 is celebrated the day of Pompe disease. Little known to the population, Pompe is considered a rare disease, that is to say with low rates of manifestation (1 person in 40 000 presents the disease per year). Symptoms include muscle weakness during the first months of life and, if left untreated, can lead to death. To find out more, iSaúde Bahia has met with the neurologist Marcela Machado, head of the Neuromuscular Diseases Clinic at the Bahiana Saúde Medical Center.
Pompe disease, also known as glycogen deficiency type 2 or acid maltase, is a rare myopathy due to deficiency.
Marcelo Machado – in an enzyme that degrades glycogen (sugar that we accumulate in the muscle) in glucose to use as energy for muscle contraction. Marcela Machado – This is a genetic disease, caused by a mutation in a gene responsible for the enzyme alfaglicosidase, which degrades glycogen into glucose in skeletal muscle.
It presents various signs and symptoms, which depend a lot on the age of onset of clinical symptoms.
In infants, the disease manifests as hypotonia, with generalized muscle weakness, during the first months of life, approximately 4-5 months, progressing to cardiac and respiratory involvement until the first year of life. If it is not identified and traced, most children will die around the age of one year.
In older children and adults, the manifestation is muscular, skeletal muscle, that is, the person responsible for the movement. As a result, patients complain of the weakness of climbing stairs and slopes, with frequent falls. With evolution, there is also the involvement of the muscles responsible for breathing. In this group of patients, there is no cardiac involvement.
What determines the age of onset of symptoms is the type of genetic mutation and the amount of enzyme that the body presents with babies with <1% residual activity of this enzyme and children and adults with varying levels, the greater the amount, the lighter the symptoms and the more the disease progresses slowly.
IS – Is it a common disease?
Marcela Machado – It is a rare disease, with an incidence (number of cases per year) for all ages, from 1: 40 000 inhabitants.
Marcelo Machado – The diagnosis is made, first, with clinical suspicion, muscle weakness and then with the dosage in the blood of the enzyme alphaglicosidase acid. Subsequently, the genetic test is performed with the confirmation of the mutation. it is a free trial conducted in centers where there is care for neuromuscular diseases.
iS – Does the disease have treatment?
Marcela Machado – Currently, treatment is performed with the replacement of the defective enzyme, with a drug applied by the vein, every 15 days. Patients not only need a medical treatment but also a respiratory and respiratory physiotherapy, as well as a neurological follow-up, cardiologist (in babies), pulmonologist, nutritionist, speech therapist and psychologist because it is a chronic disease.
iS – Is there an average age at which the initial manifestation of the disease occurs?
Marcela Machado – The age group is variable. In babies, about 4-5 months. However, in older children and adults, it is noticed at any stage of life.
Marcela Machado – In infants, there is a cardiac event, with cardiomegaly, in which children present dilation of the entire heart, in addition to severe respiratory impairment requiring ventilatory badistance. In older children and adults, there is no cardiac involvement
Marcela Machado – Enzymatic repositioning and monitoring of a multidisciplinary team treatment currently reduce the rate of progression of symptoms. In infants, it is able to improve heart and motor function, as well as in children and adults, reduce the rate of progression of muscle weakness and prevent muscle injury respiratory.
iS – Which specialist should be sought?
Marcela Machado – The neurologist, neuropediatrician and geneticist are the professionals qualified to make the diagnosis of this disease.
Marcela Machado – Because it is a genetic disease, there is no way to be warned. When there are cases of Pompe disease in the family, an badessment with the geneticist is needed for genetic counseling.
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