Genetic diseases

condition caused by mutations in one or more genes is called a genetic disorder.
Most changes in the DNA of genes do not result in a disease - these are called polymorphisms.
development of an embryo in its earliest stages.
The types of genetic disorders that the patients of family physicians may have can be classified as
follows:
1. Chromosome disorders: These disorders are caused by the loss, gain, or abnormal
arrangement of one or more chromosomes. Their frequency in the population is about 0.2%.
2. Mendelian disorders: These disorders are single-gene defects caused by a mutant allele at a
single genetic locus.
3. Multifactorial disorders: These disorders involve interactions between genes and
environmental factors. The nature of these interactions is poorly understood. It includes
cancers, diabetes, and most other diseases that develop during a patient’s life. The risks of
transmission can be estimated empirically, and their estimated frequency in the population is
about 5%.
4. Somatic genetic disorders: Mutations arise in somatic cells and are not inherited. They often
give rise to malignancies. Although the mutation is not inherited, it often requires a genetic
predisposition.
5. Mitochondrial disorders: These disorders arise from mutations in
the genetic material in mitochondria. Mitochondrial DNA is transmitted through only the
maternal line.
4
Is ageing a disease?
Traditionally, ageing has been viewed as a natural process and consequently not a disease. While
most still seem to consider ageing not to be a disease others have started to question this position.
Some have argued that ageing should be considered a disease, a syndrome or a “disease complex”.
For example, fever was once seen as a disease but the realization that different underlying causes
would lead to the appearance of fever changed its status from disease to symptom. Conversely,
several currently recognized diseases, such as osteoporosis, isolated systolic hypertension, and
senile Alzheimer's disease, were in the past ascribed to normal ageing. Osteoporosis was only
officially recognized as a disease in 1994 by the World...

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