Fabry disease – causes, symptoms, diagnosis, treatment
Fabry disease is a hereditary disease. These diseases occur because of the gene for specific enzymes not present in the …
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Genetics Complications
This category contains information about different genetic issues.
Spinal Muscular Atrophy – causes symptoms diagnosis treatment
Spinal Muscular Atrophy is a group of diseases that is an autosomal recessive genetic disease that causes muscle weakness due …
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Detail Note on Duchenne Congenital Disease
Duchenne Congenital Disease is the unwellness of the harsh weakness of muscles. It begins at the four years of the …
Rett Syndrome – causes, symptoms, diagnosis, treatment
Rett Syndrome is a developmental, genetic, and neurological issue that essentially influences young ladies. This disease is named after an …
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Progeria syndrome – causes, symptoms, diagnosis, treatment
An infrequent Syndrome in small children is defined by substantial Indications improper of immature oldness. Progeria is known as Hutchins-Gilford, …
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Neurofibromatosis – types, causes, symptoms, diagnosis, treatment
Neurofibromatosis is a genetic disorder. Neurofibromatosis forms tumors on the nerve cells. These tumors are formed on the nerves of …
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Marfan Syndrome – causes, symptoms, diagnosis, treatment
Marfan Syndrome is a disorder of connective tissues which is inherited and spread from parents to offspring. It is abbreviated …
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Gilbert syndrome – causes, symptoms, diagnosis, treatment
Gilbert syndrome was first discovered by French gastroenterologist Nicolas Gilbert in 1901. Common Names Constitutional liver dysfunctions …
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Ornithine carbonyl transferase deficiency
What is Ornithine Carbonyl Transferase Deficiency Ornithine Carbonyl Transferase Deficiency is a complex condition in which urea cycle become disturbs and …
Coffin-Lowry syndrome – causes, symptoms, diagnosis, treatment
What is Coffin-Lowry syndrome? Coffin-Lowry syndrome is infrequent hereditary diseases of skull and face mask as well as emaciation, deformities behind …
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