Genetic Disorders

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Genetic Disorders

Ullrich congenital muscular dystrophy is an inherited condition that causes severe muscular symptoms at birth or not long after. Ullrich congenital muscular dystrophy is a rare form of congenital muscular dystrophy that causes extreme muscle weakness. Congenital muscular dystrophies are inherited diseases that affect the body’s musculature and are typically

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Givlaari (Givosiran) – Subcutaneous

What Is Givlaari? Givlaari (givosiran) is an injectable prescription medication used to treat adults with acute hepatic porphyria (AHP). AHP is a group of rare genetic conditions in which there's not enough of a special liver enzyme that

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What Is Distal Muscular Dystrophy?

Distal muscular dystrophy is the name of a group of progressive disorders that leads to weakness in the distal muscles. Distal muscular dystrophy (DD), also called distal myopathy, is not one disorder, but a group of genetic disorders under the larger umbrella of muscular dystrophy. DD is marked by progressive weakness and/or wasting of the voluntary distal

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What Is Gorlin Syndrome?

Gorlin syndrome is a rare genetic disease that causes symptoms such as basal cell carcinomas and tumors. It can be challenging, but isn't fatal Gorlin syndrome is a rare genetic disorder that often runs in families. This condition is caused by a mutation in a gene that suppresses the formation of tumors. Gorlin syndrome can affect any organ in the body, including the skin, bones, and

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What Is Gene Therapy?

Learn about gene therapy, which attempts to cure disease or improve the body's ability to fight it by adding a new gene or replacing a faulty gene. Gene therapy is a type of treatment being developed to fight diseases that are caused by genetic defects. This is a relatively new medical intervention that is mainly in the experimental phase, including human trials and animal trials, for the

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Causes and Risk Factors of Fanconi Anemia

The exact cause of Fanconi anemia (FA) is unknown, but research has uncovered at least 16 genes that are linked to the disease. Learn more. Fanconi anemia (FA) is a rare hereditary disease. About 50% of cases are diagnosed before the age of 10, and an estimated 10% are diagnosed in adulthood.The exact cause of FA is unknown, but research has shown that there is a strong genetic

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What Is Kallmann Syndrome?

Kallmann syndrome is a genetic conditions causing delayed puberty and impaired sense of smell. It can be easily treated with established therapies. Kallmann syndrome is a genetic disorder that results in difficulty smelling and delayed or absent progression to puberty. The condition is often present at birth, but it may not be diagnosed until later in life. It’s a rare disease that affects

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Muscular Dystrophy Life Expectancy

Muscular dystrophy life expectancy varies significantly based on disease type. Some have a normal life span, while others have a reduced life span. Muscular dystrophies are a group of genetic diseases that impact the functioning of muscles. There are several variants of muscular dystrophy and each carries a different prognosis. Since each muscular dystrophy is unique, there are different life

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What Is Duchenne Muscular Dystrophy?

Duchenne muscular dystrophy is a progressive, usually fatal, genetic disorder that causes muscle weakness. Find out more. Duchenne muscular dystrophy (DMD) is a severe, progressive neuromuscular disease that affects the muscles. Caused by a defective gene and first appearing in childhood, DMD results in weakness and muscle loss that gets worse over time.How Common Is

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After A Near-Death Experience, Here's How I Recovered From Mind-Body Trauma

Recovery isn't just for physical injuries.

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Can You Drink Alcohol While Taking Melatonin? Experts Weigh In

Here's why you should never mix them.

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