Genetic Anomalies And Men's Health
There are many metabolic or other chronic disorders which have increased incidence in men. Similarly, there are some genetic diseases which are found only in males or have increased incidence in men. Some of these genetic disorders are mentioned below:
Klinefelter's Syndrome
Klinefelter's syndrome is a genetic abnormality that affects only males. Males usually have one X and one Y chromosome (XY). Males with Klinefelter's syndrome have extra X chromosome (XXY). This disorder is named after American physician - Harry Klinefelter. This abnormality affects approximately 1 per 1000 males, which makes it a very common sex chromosome disorder. The principal effects of this disorder are development of small testicles and reduced fertility. A variety of other physical and behavioral differences and problems are common though severity varies and many boys and men with the condition have few detectable symptoms.
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is the most common and most severe form of muscular dystrophy, which affects 1 in 3000 males. It is characterized by rapid progression of muscle degeneration, eventually leading to loss of ambulation and death. It is caused by an X-linked recessive gene carried by females and inherited by males. It was first identified and described by the French neurologist, Guillaume Duchenne, in the 1860s.
Colour Blindness
Colour blindness is the inability to perceive differences between some colours that others can distinguish. The most common cause of colour blindness is inheritance. But colour blindness can also be caused by diseases such as macular degeneration, poisoning and side effects of medication. Women are usually the carriers of the defect which is passed on through a defective X chromosome to the male offsprings.
Fragile X Syndrome
Fragile X syndrome (Martin-Bell syndrome) is a genetic syndrome which results in a spectrum of characteristic physical, intellectual, emotional and behavioural features that range from severe to mild in manifestation. Fragile X is the most commonly known inherited cause of developmental disabilities. Fragile X is due to an abnormality involving a single gene - FMR-1 - that is situated on the X chromosome. Mutation at that site is found in 1 out of about every 2000 men and 1 out of about every 259 women (though incidence of the disease itself is about 1 in every 4000 females).
Haemophilia
Haemophilia is a group of hereditary genetic disorder that impairs the body's ability to control the blood clotting that helps in stopping the blood flow when a blood vessel is injured. The effects of this sex linked X-chromosome disorder are manifested almost entirely in males, though the gene for the disorder is inherited from the mother. Females are carriers of this disorder and may have inherited it from either their mother or father.
Adrenoleukodystrophy (ALD)
Adrenoleukodystrophy (also known as Addison-Schilder Disease, Siemerling-Creutzfeldt Disease and Schilder's Disease) is transmitted as an X-linked trait that leads to progressive brain damage, failure of the adrenal glands and eventually death. Patients with X-linked ALD are all male, but about one in five women carrying the disease develop some symptoms.
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