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MPS I is a hereditary metabolic disease. A diagnosis of MPS I is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests.
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Symptoms of Pompe disease can manifest shortly after birth, in which case the condition is called classic infantile Pompe disease. They can also appear by the first year of life.
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The main treatment for severe Hemophilia involves blood transfusion and receiving replacement of the specific clotting factors as injections(2/2)
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Absence of several different types of clotting factors in the blood are associated with different varieties of Hemophilia. (1/2)
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Gaucher disease is a rare inborn error in the body’s metabolism. Hence, early treatment initiation could help patients prevent permanent damage to the body.
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In late-onset Pompe disease, symptoms in an adult start as late as the 60s. It usually does not affect the patient’s heart.
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#DidYouKnow In India, Gaucher type 3 is common where patients have neurological involvement besides affecting the liver, spleen and bone#EveryLifeIsPrecious#rarediseasepic.twitter.com/LD2i9p8dqX
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#PatientStory Involving a misdiagnosis and a surgery to remove his spleen, Abhishek is now getting better. Read about his journey with#Gaucher disease.#EveryLifeIsPrecious#rarediseasepic.twitter.com/pF6wkR70GC
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Pompe disease symptoms are similar to other medical conditions. To help figure out what's going on, your doctor may ask
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Hemophilia is an inherited bleeding disorder that causes abnormal or exaggerated bleeding and poor blood clotting. This disorder varies in its severity amongst affected individuals.
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Fabry disease can be difficult to diagnose as it is rare. A test could help detect the presence of the mutation for Fabry disease in males. Because Fabry disease can affect many different organs, a team of specialists should be consulted.
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Fabry disease is a rare inherited disorder caused by a defective gene. Genetic mutation for Fabry disease is passed from a parent to a child. This reinforces the importance of family screening in diagnosis.
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Pompe disease is a chronic condition. Specific treatment is available and a few life adjustments, like the ones mentioned, can help make patients’ lives better.
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Thalassemia is an inherited blood disorder. Treatment for Thalassemia depends on the type and severity of the disease. The best course of treatment can be decided after consulting with a doctor.
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#PatientStory Treatment has worked wonders for George. He loves sports and is an ardent fan of cricket and football. George is afflicted with Fabry disease. Read his story.#EveryLifeIsPrecious#raredisease@SumitraRoyTOIpic.twitter.com/WzFzAAZvP4
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In Hemophilia, patients with mild deficiency could bleed in case of trauma while patients with a severe deficiency may bleed without a cause.
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#PatientStory Treatment has transformed the life of Meneni Jaivant. He is afflicted with MPS I. Read his story.#EveryLifeIsPrecious#rarediseasepic.twitter.com/Brf4Grx2cv
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Bone problems are common in patients with Gaucher disease. Early treatment can help minimize permanent damage to the bones and joints.
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The signs and symptoms of MPS I may not be apparent at birth, but they begin to appear mostly during?
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Thalassemia disease can be managed by following a treatment plan and adopting healthy living habits.
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