What Is Muscular Dystrophy (Duchenne Type)? What Is Patan Syndrome? What Is Thalassemia?


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Muscular dystrophy (Duchenne type): This is a sex-linked recessive disease developing in childhood, at an age of 1 to 6 years. The disorder leads to progressive muscle weakness and atrophy so that the patient is often confined to wheelchair by the age of 12. A majority of the individuals die before the age of 20.

Patan syndrome: It results from the trisomy of chromosomes 13 (47, 13+) that leads to a cleft lip and / or plate, deafness, cardiac malformations, and mental retardations. Most children with this abnormality die within 3 months of their birth.

Thalassemia: Also called Cooley's anaemia, the disease occurs mostly in children and is nearly fatal. It occurs due to an abnormality of the haemoglobin controlled by a recessive gene which in homozygous condition causes severe anaemia.

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